SNP Links for Protein (Select 570700829) - SNP

Links from Protein

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Select item 14836733771.

rs1483673377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49166889 (GRCh38)
10:50374934 (GRCh37)
Canonical SPDI:: NC_000010.11:49166888:C:T
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49166889C>T, NC_000010.10:g.50374934C>T, NM_001010863.4:c.218G>A, NM_001010863.3:c.218G>A, NM_001010863.2:c.218G>A, NM_001010863.1:c.218G>A, NM_001288743.3:c.218G>A, NM_001288743.2:c.218G>A, NM_001288743.1:c.218G>A, NM_001288742.3:c.218G>A, NM_001288742.2:c.218G>A, NM_001288742.1:c.218G>A, NM_001288740.3:c.218G>A, NM_001288740.2:c.218G>A, NM_001288740.1:c.218G>A, XM_011539378.3:c.218G>A, XM_011539378.2:c.218G>A, XM_011539378.1:c.218G>A, NM_001288741.3:c.218G>A, NM_001288741.2:c.218G>A, NM_001288741.1:c.218G>A, NM_001353331.2:c.218G>A, NM_001353331.1:c.218G>A, XM_011539379.2:c.218G>A, XM_011539379.1:c.218G>A, NM_001353330.2:c.218G>A, NM_001353330.1:c.218G>A, XM_011539384.2:c.218G>A, XM_011539384.1:c.218G>A, XM_011539385.2:c.218G>A, XM_011539385.1:c.218G>A, XM_011539382.2:c.218G>A, XM_011539382.1:c.218G>A, XM_024447853.2:c.218G>A, XM_024447853.1:c.218G>A, XM_017015792.2:c.218G>A, XM_017015792.1:c.218G>A, XM_017015793.2:c.218G>A, XM_017015793.1:c.218G>A, XM_017015794.2:c.218G>A, XM_017015794.1:c.218G>A, XM_017015796.2:c.218G>A, XM_017015796.1:c.218G>A, XM_017015797.2:c.218G>A, XM_017015797.1:c.218G>A, XM_047424685.1:c.218G>A, XM_047424687.1:c.218G>A, XM_047424686.1:c.218G>A, XM_047424684.1:c.218G>A, NP_001010863.1:p.Ser73Asn, NP_001275672.1:p.Ser73Asn, NP_001275671.1:p.Ser73Asn, NP_001275669.1:p.Ser73Asn, XP_011537680.1:p.Ser73Asn, NP_001275670.1:p.Ser73Asn, NP_001340260.1:p.Ser73Asn, XP_011537681.1:p.Ser73Asn, NP_001340259.1:p.Ser73Asn, XP_011537686.1:p.Ser73Asn, XP_011537687.1:p.Ser73Asn, XP_011537684.1:p.Ser73Asn, XP_024303621.1:p.Ser73Asn, XP_016871281.1:p.Ser73Asn, XP_016871282.1:p.Ser73Asn, XP_016871283.1:p.Ser73Asn, XP_016871285.1:p.Ser73Asn, XP_016871286.1:p.Ser73Asn, XP_047280641.1:p.Ser73Asn, XP_047280643.1:p.Ser73Asn, XP_047280642.1:p.Ser73Asn, XP_047280640.1:p.Ser73Asn

Select item 14811614412.

rs1481161441 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:49188324 (GRCh38)
10:50396369 (GRCh37)
Canonical SPDI:: NC_000010.11:49188323:C:A
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.49188324C>A, NC_000010.10:g.50396369C>A, NM_001010863.4:c.13G>T, NM_001010863.3:c.13G>T, NM_001010863.2:c.13G>T, NM_001010863.1:c.13G>T, NM_001288743.3:c.13G>T, NM_001288743.2:c.13G>T, NM_001288743.1:c.13G>T, NM_001288742.3:c.13G>T, NM_001288742.2:c.13G>T, NM_001288742.1:c.13G>T, NM_001288740.3:c.13G>T, NM_001288740.2:c.13G>T, NM_001288740.1:c.13G>T, XM_011539378.3:c.13G>T, XM_011539378.2:c.13G>T, XM_011539378.1:c.13G>T, NM_001288741.3:c.13G>T, NM_001288741.2:c.13G>T, NM_001288741.1:c.13G>T, NM_001353331.2:c.13G>T, NM_001353331.1:c.13G>T, XM_011539379.2:c.13G>T, XM_011539379.1:c.13G>T, NM_001353330.2:c.13G>T, NM_001353330.1:c.13G>T, XM_011539384.2:c.13G>T, XM_011539384.1:c.13G>T, XM_011539385.2:c.13G>T, XM_011539385.1:c.13G>T, XM_011539382.2:c.13G>T, XM_011539382.1:c.13G>T, XM_024447853.2:c.13G>T, XM_024447853.1:c.13G>T, XM_017015792.2:c.13G>T, XM_017015792.1:c.13G>T, XM_017015793.2:c.13G>T, XM_017015793.1:c.13G>T, XM_017015794.2:c.13G>T, XM_017015794.1:c.13G>T, XM_017015796.2:c.13G>T, XM_017015796.1:c.13G>T, XM_017015797.2:c.13G>T, XM_017015797.1:c.13G>T, XM_047424685.1:c.13G>T, XM_047424687.1:c.13G>T, XM_047424686.1:c.13G>T, XM_047424684.1:c.13G>T, NP_001010863.1:p.Val5Phe, NP_001275672.1:p.Val5Phe, NP_001275671.1:p.Val5Phe, NP_001275669.1:p.Val5Phe, XP_011537680.1:p.Val5Phe, NP_001275670.1:p.Val5Phe, NP_001340260.1:p.Val5Phe, XP_011537681.1:p.Val5Phe, NP_001340259.1:p.Val5Phe, XP_011537686.1:p.Val5Phe, XP_011537687.1:p.Val5Phe, XP_011537684.1:p.Val5Phe, XP_024303621.1:p.Val5Phe, XP_016871281.1:p.Val5Phe, XP_016871282.1:p.Val5Phe, XP_016871283.1:p.Val5Phe, XP_016871285.1:p.Val5Phe, XP_016871286.1:p.Val5Phe, XP_047280641.1:p.Val5Phe, XP_047280643.1:p.Val5Phe, XP_047280642.1:p.Val5Phe, XP_047280640.1:p.Val5Phe

Select item 14798114993.

rs1479811499 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:49156248 (GRCh38)
10:50364293 (GRCh37)
Canonical SPDI:: NC_000010.11:49156247:T:A
Gene:: TMEM273 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.49156248T>A, NC_000010.10:g.50364293T>A, NM_001288743.3:c.462A>T, NM_001288743.2:c.462A>T, NM_001288743.1:c.462A>T, NM_001288742.3:c.274A>T, NM_001288742.2:c.274A>T, NM_001288742.1:c.274A>T, NM_001353331.2:c.305A>T, NM_001353331.1:c.305A>T, NP_001275672.1:p.Arg154Ser, NP_001275671.1:p.Ile92Phe, NP_001340260.1:p.Asp102Val

Select item 14780598014.

rs1478059801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:49165317 (GRCh38)
10:50373362 (GRCh37)
Canonical SPDI:: NC_000010.11:49165316:A:T
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000010.11:g.49165317A>T, NC_000010.10:g.50373362A>T, NM_001288743.3:c.314T>A, NM_001288743.2:c.314T>A, NM_001288743.1:c.314T>A, XM_011539378.3:c.314T>A, XM_011539378.2:c.314T>A, XM_011539378.1:c.314T>A, XM_011539379.2:c.314T>A, XM_011539379.1:c.314T>A, NM_001353330.2:c.314T>A, NM_001353330.1:c.314T>A, XM_017015792.2:c.314T>A, XM_017015792.1:c.314T>A, NP_001275672.1:p.Leu105Ter, XP_011537680.1:p.Leu105Ter, XP_011537681.1:p.Leu105Ter, NP_001340259.1:p.Leu105Ter, XP_016871281.1:p.Leu105Ter

Select item 14763906855.

rs1476390685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:49161605 (GRCh38)
10:50369650 (GRCh37)
Canonical SPDI:: NC_000010.11:49161604:G:C
Gene:: TMEM273 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000012/3 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000010.11:g.49161605G>C, NC_000010.10:g.50369650G>C, NM_001010863.4:c.287C>G, NM_001010863.3:c.287C>G, NM_001010863.2:c.287C>G, NM_001010863.1:c.287C>G, NM_001288743.3:c.444C>G, NM_001288743.2:c.444C>G, NM_001288743.1:c.444C>G, NM_001288742.3:c.256C>G, NM_001288742.2:c.256C>G, NM_001288742.1:c.256C>G, NM_001288740.3:c.366C>G, NM_001288740.2:c.366C>G, NM_001288740.1:c.366C>G, XM_011539378.3:c.444C>G, XM_011539378.2:c.444C>G, XM_011539378.1:c.444C>G, NM_001288741.3:c.256C>G, NM_001288741.2:c.256C>G, NM_001288741.1:c.256C>G, NM_001353331.2:c.287C>G, NM_001353331.1:c.287C>G, XM_011539379.2:c.444C>G, XM_011539379.1:c.444C>G, NM_001353330.2:c.444C>G, NM_001353330.1:c.444C>G, XM_011539384.2:c.287C>G, XM_011539384.1:c.287C>G, XM_011539385.2:c.256C>G, XM_011539385.1:c.256C>G, XM_011539382.2:c.287C>G, XM_011539382.1:c.287C>G, XM_024447853.2:c.256C>G, XM_024447853.1:c.256C>G, XM_017015792.2:c.444C>G, XM_017015792.1:c.444C>G, XM_017015793.2:c.366C>G, XM_017015793.1:c.366C>G, XM_017015794.2:c.287C>G, XM_017015794.1:c.287C>G, XM_017015797.2:c.256C>G, XM_017015797.1:c.256C>G, XM_047424685.1:c.331C>G, XM_047424687.1:c.331C>G, XM_047424686.1:c.331C>G, XM_047424684.1:c.331C>G, NP_001010863.1:p.Ser96Cys, NP_001275671.1:p.Pro86Ala, NP_001275670.1:p.Pro86Ala, NP_001340260.1:p.Ser96Cys, XP_011537686.1:p.Ser96Cys, XP_011537687.1:p.Pro86Ala, XP_011537684.1:p.Ser96Cys, XP_024303621.1:p.Pro86Ala, XP_016871283.1:p.Ser96Cys, XP_016871286.1:p.Pro86Ala, XP_047280641.1:p.Pro111Ala, XP_047280643.1:p.Pro111Ala, XP_047280642.1:p.Pro111Ala, XP_047280640.1:p.Pro111Ala

Select item 14749226886.

rs1474922688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TG [Show Flanks]
Chromosome:: 10:49156232 (GRCh38)
10:50364278 (GRCh37)
Canonical SPDI:: NC_000010.11:49156232:GTG:GTGTG
Gene:: TMEM273 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GTGTG=0./0 (ALFA)
HGVS:: NC_000010.11:g.49156234_49156235dup, NC_000010.10:g.50364279_50364280dup, NM_001288743.3:c.476_477dup, NM_001288743.2:c.476_477dup, NM_001288743.1:c.476_477dup, NM_001288742.3:c.288_289dup, NM_001288742.2:c.288_289dup, NM_001288742.1:c.288_289dup, NM_001353331.2:c.319_320dup, NM_001353331.1:c.319_320dup, NP_001275672.1:p.Gln160fs, NP_001275671.1:p.Pro97fs, NP_001340260.1:p.Asn108fs

Select item 14723663687.

rs1472366368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:49165795 (GRCh38)
10:50373840 (GRCh37)
Canonical SPDI:: NC_000010.11:49165794:G:A
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49165795G>A, NC_000010.10:g.50373840G>A, NM_001010863.4:c.240C>T, NM_001010863.3:c.240C>T, NM_001010863.2:c.240C>T, NM_001010863.1:c.240C>T, NM_001288743.3:c.240C>T, NM_001288743.2:c.240C>T, NM_001288743.1:c.240C>T, NM_001288740.3:c.240C>T, NM_001288740.2:c.240C>T, NM_001288740.1:c.240C>T, XM_011539378.3:c.240C>T, XM_011539378.2:c.240C>T, XM_011539378.1:c.240C>T, NM_001353331.2:c.240C>T, NM_001353331.1:c.240C>T, XM_011539379.2:c.240C>T, XM_011539379.1:c.240C>T, NM_001353330.2:c.240C>T, NM_001353330.1:c.240C>T, XM_011539384.2:c.240C>T, XM_011539384.1:c.240C>T, XM_011539382.2:c.240C>T, XM_011539382.1:c.240C>T, XM_017015792.2:c.240C>T, XM_017015792.1:c.240C>T, XM_017015793.2:c.240C>T, XM_017015793.1:c.240C>T, XM_017015794.2:c.240C>T, XM_017015794.1:c.240C>T, XM_017015796.2:c.240C>T, XM_017015796.1:c.240C>T, XM_047424685.1:c.240C>T, XM_047424687.1:c.240C>T, XM_047424686.1:c.240C>T, XM_047424684.1:c.240C>T

Select item 14673212378.

rs1467321237 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49156195 (GRCh38)
10:50364240 (GRCh37)
Canonical SPDI:: NC_000010.11:49156194:T:C
Gene:: TMEM273 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.49156195T>C, NC_000010.10:g.50364240T>C, NM_001288743.3:c.515A>G, NM_001288743.2:c.515A>G, NM_001288743.1:c.515A>G, NM_001288742.3:c.327A>G, NM_001288742.2:c.327A>G, NM_001288742.1:c.327A>G, NM_001353331.2:c.*22A>G, NM_001353331.1:c.*22A>G, NP_001275672.1:p.Tyr172Cys

Select item 14669578689.

rs1466957868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49188313 (GRCh38)
10:50396358 (GRCh37)
Canonical SPDI:: NC_000010.11:49188312:C:T
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.49188313C>T, NC_000010.10:g.50396358C>T, NM_001010863.4:c.24G>A, NM_001010863.3:c.24G>A, NM_001010863.2:c.24G>A, NM_001010863.1:c.24G>A, NM_001288743.3:c.24G>A, NM_001288743.2:c.24G>A, NM_001288743.1:c.24G>A, NM_001288742.3:c.24G>A, NM_001288742.2:c.24G>A, NM_001288742.1:c.24G>A, NM_001288740.3:c.24G>A, NM_001288740.2:c.24G>A, NM_001288740.1:c.24G>A, XM_011539378.3:c.24G>A, XM_011539378.2:c.24G>A, XM_011539378.1:c.24G>A, NM_001288741.3:c.24G>A, NM_001288741.2:c.24G>A, NM_001288741.1:c.24G>A, NM_001353331.2:c.24G>A, NM_001353331.1:c.24G>A, XM_011539379.2:c.24G>A, XM_011539379.1:c.24G>A, NM_001353330.2:c.24G>A, NM_001353330.1:c.24G>A, XM_011539384.2:c.24G>A, XM_011539384.1:c.24G>A, XM_011539385.2:c.24G>A, XM_011539385.1:c.24G>A, XM_011539382.2:c.24G>A, XM_011539382.1:c.24G>A, XM_024447853.2:c.24G>A, XM_024447853.1:c.24G>A, XM_017015792.2:c.24G>A, XM_017015792.1:c.24G>A, XM_017015793.2:c.24G>A, XM_017015793.1:c.24G>A, XM_017015794.2:c.24G>A, XM_017015794.1:c.24G>A, XM_017015796.2:c.24G>A, XM_017015796.1:c.24G>A, XM_017015797.2:c.24G>A, XM_017015797.1:c.24G>A, XM_047424685.1:c.24G>A, XM_047424687.1:c.24G>A, XM_047424686.1:c.24G>A, XM_047424684.1:c.24G>A

Select item 146630067510.

rs1466300675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49166974 (GRCh38)
10:50375019 (GRCh37)
Canonical SPDI:: NC_000010.11:49166973:C:T
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49166974C>T, NC_000010.10:g.50375019C>T, NM_001010863.4:c.133G>A, NM_001010863.3:c.133G>A, NM_001010863.2:c.133G>A, NM_001010863.1:c.133G>A, NM_001288743.3:c.133G>A, NM_001288743.2:c.133G>A, NM_001288743.1:c.133G>A, NM_001288742.3:c.133G>A, NM_001288742.2:c.133G>A, NM_001288742.1:c.133G>A, NM_001288740.3:c.133G>A, NM_001288740.2:c.133G>A, NM_001288740.1:c.133G>A, XM_011539378.3:c.133G>A, XM_011539378.2:c.133G>A, XM_011539378.1:c.133G>A, NM_001288741.3:c.133G>A, NM_001288741.2:c.133G>A, NM_001288741.1:c.133G>A, NM_001353331.2:c.133G>A, NM_001353331.1:c.133G>A, XM_011539379.2:c.133G>A, XM_011539379.1:c.133G>A, NM_001353330.2:c.133G>A, NM_001353330.1:c.133G>A, XM_011539384.2:c.133G>A, XM_011539384.1:c.133G>A, XM_011539385.2:c.133G>A, XM_011539385.1:c.133G>A, XM_011539382.2:c.133G>A, XM_011539382.1:c.133G>A, XM_024447853.2:c.133G>A, XM_024447853.1:c.133G>A, XM_017015792.2:c.133G>A, XM_017015792.1:c.133G>A, XM_017015793.2:c.133G>A, XM_017015793.1:c.133G>A, XM_017015794.2:c.133G>A, XM_017015794.1:c.133G>A, XM_017015796.2:c.133G>A, XM_017015796.1:c.133G>A, XM_017015797.2:c.133G>A, XM_017015797.1:c.133G>A, XM_047424685.1:c.133G>A, XM_047424687.1:c.133G>A, XM_047424686.1:c.133G>A, XM_047424684.1:c.133G>A, NP_001010863.1:p.Val45Ile, NP_001275672.1:p.Val45Ile, NP_001275671.1:p.Val45Ile, NP_001275669.1:p.Val45Ile, XP_011537680.1:p.Val45Ile, NP_001275670.1:p.Val45Ile, NP_001340260.1:p.Val45Ile, XP_011537681.1:p.Val45Ile, NP_001340259.1:p.Val45Ile, XP_011537686.1:p.Val45Ile, XP_011537687.1:p.Val45Ile, XP_011537684.1:p.Val45Ile, XP_024303621.1:p.Val45Ile, XP_016871281.1:p.Val45Ile, XP_016871282.1:p.Val45Ile, XP_016871283.1:p.Val45Ile, XP_016871285.1:p.Val45Ile, XP_016871286.1:p.Val45Ile, XP_047280641.1:p.Val45Ile, XP_047280643.1:p.Val45Ile, XP_047280642.1:p.Val45Ile, XP_047280640.1:p.Val45Ile

Select item 146412860811.

rs1464128608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:49165299 (GRCh38)
10:50373344 (GRCh37)
Canonical SPDI:: NC_000010.11:49165298:C:G
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49165299C>G, NC_000010.10:g.50373344C>G, NM_001288743.3:c.332G>C, NM_001288743.2:c.332G>C, NM_001288743.1:c.332G>C, XM_011539378.3:c.332G>C, XM_011539378.2:c.332G>C, XM_011539378.1:c.332G>C, XM_011539379.2:c.332G>C, XM_011539379.1:c.332G>C, NM_001353330.2:c.332G>C, NM_001353330.1:c.332G>C, XM_017015792.2:c.332G>C, XM_017015792.1:c.332G>C, NP_001275672.1:p.Gly111Ala, XP_011537680.1:p.Gly111Ala, XP_011537681.1:p.Gly111Ala, NP_001340259.1:p.Gly111Ala, XP_016871281.1:p.Gly111Ala

Select item 145808987312.

rs1458089873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49156244 (GRCh38)
10:50364289 (GRCh37)
Canonical SPDI:: NC_000010.11:49156243:C:T
Gene:: TMEM273 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.49156244C>T, NC_000010.10:g.50364289C>T, NM_001288743.3:c.466G>A, NM_001288743.2:c.466G>A, NM_001288743.1:c.466G>A, NM_001288742.3:c.278G>A, NM_001288742.2:c.278G>A, NM_001288742.1:c.278G>A, NM_001353331.2:c.309G>A, NM_001353331.1:c.309G>A, NP_001275672.1:p.Val156Met, NP_001275671.1:p.Cys93Tyr

Select item 145485653713.

rs1454856537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:49167939 (GRCh38)
10:50375984 (GRCh37)
Canonical SPDI:: NC_000010.11:49167938:C:T
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49167939C>T, NC_000010.10:g.50375984C>T, NM_001010863.4:c.67G>A, NM_001010863.3:c.67G>A, NM_001010863.2:c.67G>A, NM_001010863.1:c.67G>A, NM_001288743.3:c.67G>A, NM_001288743.2:c.67G>A, NM_001288743.1:c.67G>A, NM_001288742.3:c.67G>A, NM_001288742.2:c.67G>A, NM_001288742.1:c.67G>A, NM_001288740.3:c.67G>A, NM_001288740.2:c.67G>A, NM_001288740.1:c.67G>A, XM_011539378.3:c.67G>A, XM_011539378.2:c.67G>A, XM_011539378.1:c.67G>A, NM_001288741.3:c.67G>A, NM_001288741.2:c.67G>A, NM_001288741.1:c.67G>A, NM_001353331.2:c.67G>A, NM_001353331.1:c.67G>A, XM_011539379.2:c.67G>A, XM_011539379.1:c.67G>A, NM_001353330.2:c.67G>A, NM_001353330.1:c.67G>A, XM_011539384.2:c.67G>A, XM_011539384.1:c.67G>A, XM_011539385.2:c.67G>A, XM_011539385.1:c.67G>A, XM_011539382.2:c.67G>A, XM_011539382.1:c.67G>A, XM_024447853.2:c.67G>A, XM_024447853.1:c.67G>A, XM_017015792.2:c.67G>A, XM_017015792.1:c.67G>A, XM_017015793.2:c.67G>A, XM_017015793.1:c.67G>A, XM_017015794.2:c.67G>A, XM_017015794.1:c.67G>A, XM_017015796.2:c.67G>A, XM_017015796.1:c.67G>A, XM_017015797.2:c.67G>A, XM_017015797.1:c.67G>A, XM_047424685.1:c.67G>A, XM_047424687.1:c.67G>A, XM_047424686.1:c.67G>A, XM_047424684.1:c.67G>A, NP_001010863.1:p.Ala23Thr, NP_001275672.1:p.Ala23Thr, NP_001275671.1:p.Ala23Thr, NP_001275669.1:p.Ala23Thr, XP_011537680.1:p.Ala23Thr, NP_001275670.1:p.Ala23Thr, NP_001340260.1:p.Ala23Thr, XP_011537681.1:p.Ala23Thr, NP_001340259.1:p.Ala23Thr, XP_011537686.1:p.Ala23Thr, XP_011537687.1:p.Ala23Thr, XP_011537684.1:p.Ala23Thr, XP_024303621.1:p.Ala23Thr, XP_016871281.1:p.Ala23Thr, XP_016871282.1:p.Ala23Thr, XP_016871283.1:p.Ala23Thr, XP_016871285.1:p.Ala23Thr, XP_016871286.1:p.Ala23Thr, XP_047280641.1:p.Ala23Thr, XP_047280643.1:p.Ala23Thr, XP_047280642.1:p.Ala23Thr, XP_047280640.1:p.Ala23Thr

Select item 145076064714.

rs1450760647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:49166984 (GRCh38)
10:50375029 (GRCh37)
Canonical SPDI:: NC_000010.11:49166983:A:G
Gene:: TMEM273 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49166984A>G, NC_000010.10:g.50375029A>G, NM_001010863.4:c.123T>C, NM_001010863.3:c.123T>C, NM_001010863.2:c.123T>C, NM_001010863.1:c.123T>C, NM_001288743.3:c.123T>C, NM_001288743.2:c.123T>C, NM_001288743.1:c.123T>C, NM_001288742.3:c.123T>C, NM_001288742.2:c.123T>C, NM_001288742.1:c.123T>C, NM_001288740.3:c.123T>C, NM_001288740.2:c.123T>C, NM_001288740.1:c.123T>C, XM_011539378.3:c.123T>C, XM_011539378.2:c.123T>C, XM_011539378.1:c.123T>C, NM_001288741.3:c.123T>C, NM_001288741.2:c.123T>C, NM_001288741.1:c.123T>C, NM_001353331.2:c.123T>C, NM_001353331.1:c.123T>C, XM_011539379.2:c.123T>C, XM_011539379.1:c.123T>C, NM_001353330.2:c.123T>C, NM_001353330.1:c.123T>C, XM_011539384.2:c.123T>C, XM_011539384.1:c.123T>C, XM_011539385.2:c.123T>C, XM_011539385.1:c.123T>C, XM_011539382.2:c.123T>C, XM_011539382.1:c.123T>C, XM_024447853.2:c.123T>C, XM_024447853.1:c.123T>C, XM_017015792.2:c.123T>C, XM_017015792.1:c.123T>C, XM_017015793.2:c.123T>C, XM_017015793.1:c.123T>C, XM_017015794.2:c.123T>C, XM_017015794.1:c.123T>C, XM_017015796.2:c.123T>C, XM_017015796.1:c.123T>C, XM_017015797.2:c.123T>C, XM_017015797.1:c.123T>C, XM_047424685.1:c.123T>C, XM_047424687.1:c.123T>C, XM_047424686.1:c.123T>C, XM_047424684.1:c.123T>C

Select item 144790600015.

rs1447906000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49156227 (GRCh38)
10:50364272 (GRCh37)
Canonical SPDI:: NC_000010.11:49156226:T:C
Gene:: TMEM273 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49156227T>C, NC_000010.10:g.50364272T>C, NM_001288743.3:c.483A>G, NM_001288743.2:c.483A>G, NM_001288743.1:c.483A>G, NM_001288742.3:c.295A>G, NM_001288742.2:c.295A>G, NM_001288742.1:c.295A>G, NM_001353331.2:c.326A>G, NM_001353331.1:c.326A>G, NP_001275671.1:p.Thr99Ala, NP_001340260.1:p.Tyr109Cys

Select item 144267453416.

rs1442674534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:49156258 (GRCh38)
10:50364303 (GRCh37)
Canonical SPDI:: NC_000010.11:49156257:T:G
Gene:: TMEM273 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.49156258T>G, NC_000010.10:g.50364303T>G, NM_001288743.3:c.452A>C, NM_001288743.2:c.452A>C, NM_001288743.1:c.452A>C, NM_001288742.3:c.264A>C, NM_001288742.2:c.264A>C, NM_001288742.1:c.264A>C, NM_001353331.2:c.295A>C, NM_001353331.1:c.295A>C, NP_001275672.1:p.His151Pro, NP_001340260.1:p.Ile99Leu

Select item 144251184817.

rs1442511848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:49167002 (GRCh38)
10:50375047 (GRCh37)
Canonical SPDI:: NC_000010.11:49167001:C:G
Gene:: TMEM273 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (GnomAD)
HGVS:: NC_000010.11:g.49167002C>G, NC_000010.10:g.50375047C>G, NM_001010863.4:c.105G>C, NM_001010863.3:c.105G>C, NM_001010863.2:c.105G>C, NM_001010863.1:c.105G>C, NM_001288743.3:c.105G>C, NM_001288743.2:c.105G>C, NM_001288743.1:c.105G>C, NM_001288742.3:c.105G>C, NM_001288742.2:c.105G>C, NM_001288742.1:c.105G>C, NM_001288740.3:c.105G>C, NM_001288740.2:c.105G>C, NM_001288740.1:c.105G>C, XM_011539378.3:c.105G>C, XM_011539378.2:c.105G>C, XM_011539378.1:c.105G>C, NM_001288741.3:c.105G>C, NM_001288741.2:c.105G>C, NM_001288741.1:c.105G>C, NM_001353331.2:c.105G>C, NM_001353331.1:c.105G>C, XM_011539379.2:c.105G>C, XM_011539379.1:c.105G>C, NM_001353330.2:c.105G>C, NM_001353330.1:c.105G>C, XM_011539384.2:c.105G>C, XM_011539384.1:c.105G>C, XM_011539385.2:c.105G>C, XM_011539385.1:c.105G>C, XM_011539382.2:c.105G>C, XM_011539382.1:c.105G>C, XM_024447853.2:c.105G>C, XM_024447853.1:c.105G>C, XM_017015792.2:c.105G>C, XM_017015792.1:c.105G>C, XM_017015793.2:c.105G>C, XM_017015793.1:c.105G>C, XM_017015794.2:c.105G>C, XM_017015794.1:c.105G>C, XM_017015796.2:c.105G>C, XM_017015796.1:c.105G>C, XM_017015797.2:c.105G>C, XM_017015797.1:c.105G>C, XM_047424685.1:c.105G>C, XM_047424687.1:c.105G>C, XM_047424686.1:c.105G>C, XM_047424684.1:c.105G>C, NP_001010863.1:p.Lys35Asn, NP_001275672.1:p.Lys35Asn, NP_001275671.1:p.Lys35Asn, NP_001275669.1:p.Lys35Asn, XP_011537680.1:p.Lys35Asn, NP_001275670.1:p.Lys35Asn, NP_001340260.1:p.Lys35Asn, XP_011537681.1:p.Lys35Asn, NP_001340259.1:p.Lys35Asn, XP_011537686.1:p.Lys35Asn, XP_011537687.1:p.Lys35Asn, XP_011537684.1:p.Lys35Asn, XP_024303621.1:p.Lys35Asn, XP_016871281.1:p.Lys35Asn, XP_016871282.1:p.Lys35Asn, XP_016871283.1:p.Lys35Asn, XP_016871285.1:p.Lys35Asn, XP_016871286.1:p.Lys35Asn, XP_047280641.1:p.Lys35Asn, XP_047280643.1:p.Lys35Asn, XP_047280642.1:p.Lys35Asn, XP_047280640.1:p.Lys35Asn

Select item 144242072918.

rs1442420729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:49166967 (GRCh38)
10:50375012 (GRCh37)
Canonical SPDI:: NC_000010.11:49166966:A:G
Gene:: TMEM273 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.49166967A>G, NC_000010.10:g.50375012A>G, NM_001010863.4:c.140T>C, NM_001010863.3:c.140T>C, NM_001010863.2:c.140T>C, NM_001010863.1:c.140T>C, NM_001288743.3:c.140T>C, NM_001288743.2:c.140T>C, NM_001288743.1:c.140T>C, NM_001288742.3:c.140T>C, NM_001288742.2:c.140T>C, NM_001288742.1:c.140T>C, NM_001288740.3:c.140T>C, NM_001288740.2:c.140T>C, NM_001288740.1:c.140T>C, XM_011539378.3:c.140T>C, XM_011539378.2:c.140T>C, XM_011539378.1:c.140T>C, NM_001288741.3:c.140T>C, NM_001288741.2:c.140T>C, NM_001288741.1:c.140T>C, NM_001353331.2:c.140T>C, NM_001353331.1:c.140T>C, XM_011539379.2:c.140T>C, XM_011539379.1:c.140T>C, NM_001353330.2:c.140T>C, NM_001353330.1:c.140T>C, XM_011539384.2:c.140T>C, XM_011539384.1:c.140T>C, XM_011539385.2:c.140T>C, XM_011539385.1:c.140T>C, XM_011539382.2:c.140T>C, XM_011539382.1:c.140T>C, XM_024447853.2:c.140T>C, XM_024447853.1:c.140T>C, XM_017015792.2:c.140T>C, XM_017015792.1:c.140T>C, XM_017015793.2:c.140T>C, XM_017015793.1:c.140T>C, XM_017015794.2:c.140T>C, XM_017015794.1:c.140T>C, XM_017015796.2:c.140T>C, XM_017015796.1:c.140T>C, XM_017015797.2:c.140T>C, XM_017015797.1:c.140T>C, XM_047424685.1:c.140T>C, XM_047424687.1:c.140T>C, XM_047424686.1:c.140T>C, XM_047424684.1:c.140T>C, NP_001010863.1:p.Ile47Thr, NP_001275672.1:p.Ile47Thr, NP_001275671.1:p.Ile47Thr, NP_001275669.1:p.Ile47Thr, XP_011537680.1:p.Ile47Thr, NP_001275670.1:p.Ile47Thr, NP_001340260.1:p.Ile47Thr, XP_011537681.1:p.Ile47Thr, NP_001340259.1:p.Ile47Thr, XP_011537686.1:p.Ile47Thr, XP_011537687.1:p.Ile47Thr, XP_011537684.1:p.Ile47Thr, XP_024303621.1:p.Ile47Thr, XP_016871281.1:p.Ile47Thr, XP_016871282.1:p.Ile47Thr, XP_016871283.1:p.Ile47Thr, XP_016871285.1:p.Ile47Thr, XP_016871286.1:p.Ile47Thr, XP_047280641.1:p.Ile47Thr, XP_047280643.1:p.Ile47Thr, XP_047280642.1:p.Ile47Thr, XP_047280640.1:p.Ile47Thr

Select item 143646432419.

rs1436464324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:49165326 (GRCh38)
10:50373371 (GRCh37)
Canonical SPDI:: NC_000010.11:49165325:G:C
Gene:: TMEM273 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.49165326G>C, NC_000010.10:g.50373371G>C, NM_001288743.3:c.305C>G, NM_001288743.2:c.305C>G, NM_001288743.1:c.305C>G, XM_011539378.3:c.305C>G, XM_011539378.2:c.305C>G, XM_011539378.1:c.305C>G, XM_011539379.2:c.305C>G, XM_011539379.1:c.305C>G, NM_001353330.2:c.305C>G, NM_001353330.1:c.305C>G, XM_017015792.2:c.305C>G, XM_017015792.1:c.305C>G, NP_001275672.1:p.Pro102Arg, XP_011537680.1:p.Pro102Arg, XP_011537681.1:p.Pro102Arg, NP_001340259.1:p.Pro102Arg, XP_016871281.1:p.Pro102Arg

Select item 142598148220.

rs1425981482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:49166898 (GRCh38)
10:50374943 (GRCh37)
Canonical SPDI:: NC_000010.11:49166897:T:C
Gene:: TMEM273 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000088/22 (GnomAD_exomes)
C=0.000189/50 (TOPMED)
C=0.000243/34 (GnomAD)
HGVS:: NC_000010.11:g.49166898T>C, NC_000010.10:g.50374943T>C, NM_001010863.4:c.209A>G, NM_001010863.3:c.209A>G, NM_001010863.2:c.209A>G, NM_001010863.1:c.209A>G, NM_001288743.3:c.209A>G, NM_001288743.2:c.209A>G, NM_001288743.1:c.209A>G, NM_001288742.3:c.209A>G, NM_001288742.2:c.209A>G, NM_001288742.1:c.209A>G, NM_001288740.3:c.209A>G, NM_001288740.2:c.209A>G, NM_001288740.1:c.209A>G, XM_011539378.3:c.209A>G, XM_011539378.2:c.209A>G, XM_011539378.1:c.209A>G, NM_001288741.3:c.209A>G, NM_001288741.2:c.209A>G, NM_001288741.1:c.209A>G, NM_001353331.2:c.209A>G, NM_001353331.1:c.209A>G, XM_011539379.2:c.209A>G, XM_011539379.1:c.209A>G, NM_001353330.2:c.209A>G, NM_001353330.1:c.209A>G, XM_011539384.2:c.209A>G, XM_011539384.1:c.209A>G, XM_011539385.2:c.209A>G, XM_011539385.1:c.209A>G, XM_011539382.2:c.209A>G, XM_011539382.1:c.209A>G, XM_024447853.2:c.209A>G, XM_024447853.1:c.209A>G, XM_017015792.2:c.209A>G, XM_017015792.1:c.209A>G, XM_017015793.2:c.209A>G, XM_017015793.1:c.209A>G, XM_017015794.2:c.209A>G, XM_017015794.1:c.209A>G, XM_017015796.2:c.209A>G, XM_017015796.1:c.209A>G, XM_017015797.2:c.209A>G, XM_017015797.1:c.209A>G, XM_047424685.1:c.209A>G, XM_047424687.1:c.209A>G, XM_047424686.1:c.209A>G, XM_047424684.1:c.209A>G, NP_001010863.1:p.Asp70Gly, NP_001275672.1:p.Asp70Gly, NP_001275671.1:p.Asp70Gly, NP_001275669.1:p.Asp70Gly, XP_011537680.1:p.Asp70Gly, NP_001275670.1:p.Asp70Gly, NP_001340260.1:p.Asp70Gly, XP_011537681.1:p.Asp70Gly, NP_001340259.1:p.Asp70Gly, XP_011537686.1:p.Asp70Gly, XP_011537687.1:p.Asp70Gly, XP_011537684.1:p.Asp70Gly, XP_024303621.1:p.Asp70Gly, XP_016871281.1:p.Asp70Gly, XP_016871282.1:p.Asp70Gly, XP_016871283.1:p.Asp70Gly, XP_016871285.1:p.Asp70Gly, XP_016871286.1:p.Asp70Gly, XP_047280641.1:p.Asp70Gly, XP_047280643.1:p.Asp70Gly, XP_047280642.1:p.Asp70Gly, XP_047280640.1:p.Asp70Gly

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