SNP Links for Protein (Select 58331122) - SNP

Links from Protein

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Select item 14743508791.

rs1474350879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:5100916 (GRCh38)
20:5081562 (GRCh37)
Canonical SPDI:: NC_000020.11:5100915:C:T
Gene:: TMEM230 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5100916C>T, NC_000020.10:g.5081562C>T, NG_053057.1:g.17172G>A, NM_014145.5:c.238G>A, NM_014145.4:c.238G>A, NM_001009924.2:c.238G>A, NM_001009924.1:c.238G>A, NM_001330984.2:c.238G>A, NM_001330984.1:c.238G>A, NM_001330985.2:c.238G>A, NM_001330985.1:c.238G>A, NM_001330986.2:c.238G>A, NM_001330986.1:c.238G>A, NM_001009923.2:c.427G>A, NM_001009923.1:c.427G>A, NM_001009925.2:c.238G>A, NM_001009925.1:c.238G>A, XM_047440132.1:c.304G>A, NP_054864.3:p.Val80Ile, NP_001009924.1:p.Val80Ile, NP_001317913.1:p.Val80Ile, NP_001317914.1:p.Val80Ile, NP_001317915.1:p.Val80Ile, NP_001009923.1:p.Val143Ile, NP_001009925.1:p.Val80Ile, XP_047296088.1:p.Val102Ile

Select item 14702767902.

rs1470276790 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 20:5106206 (GRCh38)
20:5086852 (GRCh37)
Canonical SPDI:: NC_000020.11:5106205:T:A,NC_000020.11:5106205:T:G
Gene:: TMEM230 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5106206T>A, NC_000020.11:g.5106206T>G, NC_000020.10:g.5086852T>A, NC_000020.10:g.5086852T>G, NG_053057.1:g.11882A>T, NG_053057.1:g.11882A>C, NM_014145.5:c.204A>T, NM_014145.5:c.204A>C, NM_014145.4:c.204A>T, NM_014145.4:c.204A>C, NM_001009924.2:c.204A>T, NM_001009924.2:c.204A>C, NM_001009924.1:c.204A>T, NM_001009924.1:c.204A>C, NM_001330984.2:c.204A>T, NM_001330984.2:c.204A>C, NM_001330984.1:c.204A>T, NM_001330984.1:c.204A>C, NM_001330985.2:c.204A>T, NM_001330985.2:c.204A>C, NM_001330985.1:c.204A>T, NM_001330985.1:c.204A>C, NM_001330986.2:c.204A>T, NM_001330986.2:c.204A>C, NM_001330986.1:c.204A>T, NM_001330986.1:c.204A>C, NM_001009923.2:c.393A>T, NM_001009923.2:c.393A>C, NM_001009923.1:c.393A>T, NM_001009923.1:c.393A>C, NM_001009925.2:c.204A>T, NM_001009925.2:c.204A>C, NM_001009925.1:c.204A>T, NM_001009925.1:c.204A>C, NM_001330987.2:c.204A>T, NM_001330987.2:c.204A>C, NM_001330987.1:c.204A>T, NM_001330987.1:c.204A>C, XR_002958478.2:n.335A>T, XR_002958478.2:n.335A>C, XR_002958478.1:n.287A>T, XR_002958478.1:n.287A>C, XR_002958484.2:n.611A>T, XR_002958484.2:n.611A>C, XR_002958484.1:n.488A>T, XR_002958484.1:n.488A>C, XR_002958476.2:n.441A>T, XR_002958476.2:n.441A>C, XR_002958476.1:n.455A>T, XR_002958476.1:n.455A>C, XR_002958479.2:n.335A>T, XR_002958479.2:n.335A>C, XR_002958479.1:n.346A>T, XR_002958479.1:n.346A>C, XR_007067454.1:n.441A>T, XR_007067454.1:n.441A>C

Select item 14586192743.

rs1458619274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:5100840 (GRCh38)
20:5081486 (GRCh37)
Canonical SPDI:: NC_000020.11:5100839:T:C
Gene:: TMEM230 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000020.11:g.5100840T>C, NC_000020.10:g.5081486T>C, NG_053057.1:g.17248A>G, NM_014145.5:c.314A>G, NM_014145.4:c.314A>G, NM_001009924.2:c.314A>G, NM_001009924.1:c.314A>G, NM_001330984.2:c.314A>G, NM_001330984.1:c.314A>G, NM_001330985.2:c.314A>G, NM_001330985.1:c.314A>G, NM_001330986.2:c.314A>G, NM_001330986.1:c.314A>G, NM_001009923.2:c.503A>G, NM_001009923.1:c.503A>G, NM_001009925.2:c.314A>G, NM_001009925.1:c.314A>G, XM_047440132.1:c.380A>G, NP_054864.3:p.Lys105Arg, NP_001009924.1:p.Lys105Arg, NP_001317913.1:p.Lys105Arg, NP_001317914.1:p.Lys105Arg, NP_001317915.1:p.Lys105Arg, NP_001009923.1:p.Lys168Arg, NP_001009925.1:p.Lys105Arg, XP_047296088.1:p.Lys127Arg

Select item 14577647094.

rs1457764709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:5109348 (GRCh38)
20:5089994 (GRCh37)
Canonical SPDI:: NC_000020.11:5109347:C:A,NC_000020.11:5109347:C:T
Gene:: TMEM230 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5109348C>A, NC_000020.11:g.5109348C>T, NC_000020.10:g.5089994C>A, NC_000020.10:g.5089994C>T, NG_053057.1:g.8740G>T, NG_053057.1:g.8740G>A, NM_014145.5:c.83G>T, NM_014145.5:c.83G>A, NM_014145.4:c.83G>T, NM_014145.4:c.83G>A, NM_001009924.2:c.83G>T, NM_001009924.2:c.83G>A, NM_001009924.1:c.83G>T, NM_001009924.1:c.83G>A, NM_001330984.2:c.83G>T, NM_001330984.2:c.83G>A, NM_001330984.1:c.83G>T, NM_001330984.1:c.83G>A, NM_001330985.2:c.83G>T, NM_001330985.2:c.83G>A, NM_001330985.1:c.83G>T, NM_001330985.1:c.83G>A, NM_001330986.2:c.83G>T, NM_001330986.2:c.83G>A, NM_001330986.1:c.83G>T, NM_001330986.1:c.83G>A, NM_001009923.2:c.272G>T, NM_001009923.2:c.272G>A, NM_001009923.1:c.272G>T, NM_001009923.1:c.272G>A, NM_001009925.2:c.83G>T, NM_001009925.2:c.83G>A, NM_001009925.1:c.83G>T, NM_001009925.1:c.83G>A, NM_001330987.2:c.83G>T, NM_001330987.2:c.83G>A, NM_001330987.1:c.83G>T, NM_001330987.1:c.83G>A, XR_002958478.2:n.214G>T, XR_002958478.2:n.214G>A, XR_002958478.1:n.166G>T, XR_002958478.1:n.166G>A, XR_002958484.2:n.490G>T, XR_002958484.2:n.490G>A, XR_002958484.1:n.367G>T, XR_002958484.1:n.367G>A, XR_002958476.2:n.320G>T, XR_002958476.2:n.320G>A, XR_002958476.1:n.334G>T, XR_002958476.1:n.334G>A, XR_002958479.2:n.214G>T, XR_002958479.2:n.214G>A, XR_002958479.1:n.225G>T, XR_002958479.1:n.225G>A, XM_047440132.1:c.272G>T, XM_047440132.1:c.272G>A, XR_007067454.1:n.320G>T, XR_007067454.1:n.320G>A, NP_054864.3:p.Gly28Val, NP_054864.3:p.Gly28Asp, NP_001009924.1:p.Gly28Val, NP_001009924.1:p.Gly28Asp, NP_001317913.1:p.Gly28Val, NP_001317913.1:p.Gly28Asp, NP_001317914.1:p.Gly28Val, NP_001317914.1:p.Gly28Asp, NP_001317915.1:p.Gly28Val, NP_001317915.1:p.Gly28Asp, NP_001009923.1:p.Gly91Val, NP_001009923.1:p.Gly91Asp, NP_001009925.1:p.Gly28Val, NP_001009925.1:p.Gly28Asp, NP_001317916.1:p.Gly28Val, NP_001317916.1:p.Gly28Asp, XP_047296088.1:p.Gly91Val, XP_047296088.1:p.Gly91Asp

Select item 14532489255.

rs1453248925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:5106273 (GRCh38)
20:5086919 (GRCh37)
Canonical SPDI:: NC_000020.11:5106272:A:T
Gene:: TMEM230 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.5106273A>T, NC_000020.10:g.5086919A>T, NG_053057.1:g.11815T>A, NM_014145.5:c.137T>A, NM_014145.4:c.137T>A, NM_001009924.2:c.137T>A, NM_001009924.1:c.137T>A, NM_001330984.2:c.137T>A, NM_001330984.1:c.137T>A, NM_001330985.2:c.137T>A, NM_001330985.1:c.137T>A, NM_001330986.2:c.137T>A, NM_001330986.1:c.137T>A, NM_001009923.2:c.326T>A, NM_001009923.1:c.326T>A, NM_001009925.2:c.137T>A, NM_001009925.1:c.137T>A, NM_001330987.2:c.137T>A, NM_001330987.1:c.137T>A, XR_002958478.2:n.268T>A, XR_002958478.1:n.220T>A, XR_002958484.2:n.544T>A, XR_002958484.1:n.421T>A, XR_002958476.2:n.374T>A, XR_002958476.1:n.388T>A, XR_002958479.2:n.268T>A, XR_002958479.1:n.279T>A, XR_007067454.1:n.374T>A, NP_054864.3:p.Ile46Asn, NP_001009924.1:p.Ile46Asn, NP_001317913.1:p.Ile46Asn, NP_001317914.1:p.Ile46Asn, NP_001317915.1:p.Ile46Asn, NP_001009923.1:p.Ile109Asn, NP_001009925.1:p.Ile46Asn, NP_001317916.1:p.Ile46Asn

Select item 14525448446.

rs1452544844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5100891 (GRCh38)
20:5081537 (GRCh37)
Canonical SPDI:: NC_000020.11:5100890:A:G
Gene:: TMEM230 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5100891A>G, NC_000020.10:g.5081537A>G, NG_053057.1:g.17197T>C, NM_014145.5:c.263T>C, NM_014145.4:c.263T>C, NM_001009924.2:c.263T>C, NM_001009924.1:c.263T>C, NM_001330984.2:c.263T>C, NM_001330984.1:c.263T>C, NM_001330985.2:c.263T>C, NM_001330985.1:c.263T>C, NM_001330986.2:c.263T>C, NM_001330986.1:c.263T>C, NM_001009923.2:c.452T>C, NM_001009923.1:c.452T>C, NM_001009925.2:c.263T>C, NM_001009925.1:c.263T>C, XM_047440132.1:c.329T>C, NP_054864.3:p.Leu88Pro, NP_001009924.1:p.Leu88Pro, NP_001317913.1:p.Leu88Pro, NP_001317914.1:p.Leu88Pro, NP_001317915.1:p.Leu88Pro, NP_001009923.1:p.Leu151Pro, NP_001009925.1:p.Leu88Pro, XP_047296088.1:p.Leu110Pro

Select item 14489725087.

rs1448972508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:5106191 (GRCh38)
20:5086837 (GRCh37)
Canonical SPDI:: NC_000020.11:5106190:T:A
Gene:: TMEM230 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5106191T>A, NC_000020.10:g.5086837T>A, NG_053057.1:g.11897A>T, NM_014145.5:c.219A>T, NM_014145.4:c.219A>T, NM_001009924.2:c.219A>T, NM_001009924.1:c.219A>T, NM_001330984.2:c.219A>T, NM_001330984.1:c.219A>T, NM_001330985.2:c.219A>T, NM_001330985.1:c.219A>T, NM_001330986.2:c.219A>T, NM_001330986.1:c.219A>T, NM_001009923.2:c.408A>T, NM_001009923.1:c.408A>T, NM_001009925.2:c.219A>T, NM_001009925.1:c.219A>T, NM_001330987.2:c.219A>T, NM_001330987.1:c.219A>T, XR_002958478.2:n.350A>T, XR_002958478.1:n.302A>T, XR_002958484.2:n.626A>T, XR_002958484.1:n.503A>T, XR_002958476.2:n.456A>T, XR_002958476.1:n.470A>T, XR_002958479.2:n.350A>T, XR_002958479.1:n.361A>T, XR_007067454.1:n.456A>T, NP_054864.3:p.Lys73Asn, NP_001009924.1:p.Lys73Asn, NP_001317913.1:p.Lys73Asn, NP_001317914.1:p.Lys73Asn, NP_001317915.1:p.Lys73Asn, NP_001009923.1:p.Lys136Asn, NP_001009925.1:p.Lys73Asn, NP_001317916.1:p.Lys73Asn

Select item 14443332208.

rs1444333220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5100860 (GRCh38)
20:5081506 (GRCh37)
Canonical SPDI:: NC_000020.11:5100859:G:A
Gene:: TMEM230 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5100860G>A, NC_000020.10:g.5081506G>A, NG_053057.1:g.17228C>T, NM_014145.5:c.294C>T, NM_014145.4:c.294C>T, NM_001009924.2:c.294C>T, NM_001009924.1:c.294C>T, NM_001330984.2:c.294C>T, NM_001330984.1:c.294C>T, NM_001330985.2:c.294C>T, NM_001330985.1:c.294C>T, NM_001330986.2:c.294C>T, NM_001330986.1:c.294C>T, NM_001009923.2:c.483C>T, NM_001009923.1:c.483C>T, NM_001009925.2:c.294C>T, NM_001009925.1:c.294C>T, XM_047440132.1:c.360C>T

Select item 14363765619.

rs1436376561 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:5109333 (GRCh38)
20:5089979 (GRCh37)
Canonical SPDI:: NC_000020.11:5109332:T:G
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.5109333T>G, NC_000020.10:g.5089979T>G, NG_053057.1:g.8755A>C, NM_014145.5:c.98A>C, NM_014145.4:c.98A>C, NM_001009924.2:c.98A>C, NM_001009924.1:c.98A>C, NM_001330984.2:c.98A>C, NM_001330984.1:c.98A>C, NM_001330985.2:c.98A>C, NM_001330985.1:c.98A>C, NM_001330986.2:c.98A>C, NM_001330986.1:c.98A>C, NM_001009923.2:c.287A>C, NM_001009923.1:c.287A>C, NM_001009925.2:c.98A>C, NM_001009925.1:c.98A>C, NM_001330987.2:c.98A>C, NM_001330987.1:c.98A>C, XR_002958478.2:n.229A>C, XR_002958478.1:n.181A>C, XR_002958484.2:n.505A>C, XR_002958484.1:n.382A>C, XR_002958476.2:n.335A>C, XR_002958476.1:n.349A>C, XR_002958479.2:n.229A>C, XR_002958479.1:n.240A>C, XM_047440132.1:c.287A>C, XR_007067454.1:n.335A>C, NP_054864.3:p.Gln33Pro, NP_001009924.1:p.Gln33Pro, NP_001317913.1:p.Gln33Pro, NP_001317914.1:p.Gln33Pro, NP_001317915.1:p.Gln33Pro, NP_001009923.1:p.Gln96Pro, NP_001009925.1:p.Gln33Pro, NP_001317916.1:p.Gln33Pro, XP_047296088.1:p.Gln96Pro

Select item 141687754110.

rs1416877541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:5109368 (GRCh38)
20:5090014 (GRCh37)
Canonical SPDI:: NC_000020.11:5109367:C:A,NC_000020.11:5109367:C:G
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.5109368C>A, NC_000020.11:g.5109368C>G, NC_000020.10:g.5090014C>A, NC_000020.10:g.5090014C>G, NG_053057.1:g.8720G>T, NG_053057.1:g.8720G>C, NM_014145.5:c.63G>T, NM_014145.5:c.63G>C, NM_014145.4:c.63G>T, NM_014145.4:c.63G>C, NM_001009924.2:c.63G>T, NM_001009924.2:c.63G>C, NM_001009924.1:c.63G>T, NM_001009924.1:c.63G>C, NM_001330984.2:c.63G>T, NM_001330984.2:c.63G>C, NM_001330984.1:c.63G>T, NM_001330984.1:c.63G>C, NM_001330985.2:c.63G>T, NM_001330985.2:c.63G>C, NM_001330985.1:c.63G>T, NM_001330985.1:c.63G>C, NM_001330986.2:c.63G>T, NM_001330986.2:c.63G>C, NM_001330986.1:c.63G>T, NM_001330986.1:c.63G>C, NM_001009923.2:c.252G>T, NM_001009923.2:c.252G>C, NM_001009923.1:c.252G>T, NM_001009923.1:c.252G>C, NM_001009925.2:c.63G>T, NM_001009925.2:c.63G>C, NM_001009925.1:c.63G>T, NM_001009925.1:c.63G>C, NM_001330987.2:c.63G>T, NM_001330987.2:c.63G>C, NM_001330987.1:c.63G>T, NM_001330987.1:c.63G>C, XR_002958478.2:n.194G>T, XR_002958478.2:n.194G>C, XR_002958478.1:n.146G>T, XR_002958478.1:n.146G>C, XR_002958484.2:n.470G>T, XR_002958484.2:n.470G>C, XR_002958484.1:n.347G>T, XR_002958484.1:n.347G>C, XR_002958476.2:n.300G>T, XR_002958476.2:n.300G>C, XR_002958476.1:n.314G>T, XR_002958476.1:n.314G>C, XR_002958479.2:n.194G>T, XR_002958479.2:n.194G>C, XR_002958479.1:n.205G>T, XR_002958479.1:n.205G>C, XM_047440132.1:c.252G>T, XM_047440132.1:c.252G>C, XR_007067454.1:n.300G>T, XR_007067454.1:n.300G>C, NP_054864.3:p.Arg21Ser, NP_054864.3:p.Arg21Ser, NP_001009924.1:p.Arg21Ser, NP_001009924.1:p.Arg21Ser, NP_001317913.1:p.Arg21Ser, NP_001317913.1:p.Arg21Ser, NP_001317914.1:p.Arg21Ser, NP_001317914.1:p.Arg21Ser, NP_001317915.1:p.Arg21Ser, NP_001317915.1:p.Arg21Ser, NP_001009923.1:p.Arg84Ser, NP_001009923.1:p.Arg84Ser, NP_001009925.1:p.Arg21Ser, NP_001009925.1:p.Arg21Ser, NP_001317916.1:p.Arg21Ser, NP_001317916.1:p.Arg21Ser, XP_047296088.1:p.Arg84Ser, XP_047296088.1:p.Arg84Ser

Select item 141190688411.

rs1411906884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:5109363 (GRCh38)
20:5090009 (GRCh37)
Canonical SPDI:: NC_000020.11:5109362:G:A,NC_000020.11:5109362:G:C
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5109363G>A, NC_000020.11:g.5109363G>C, NC_000020.10:g.5090009G>A, NC_000020.10:g.5090009G>C, NG_053057.1:g.8725C>T, NG_053057.1:g.8725C>G, NM_014145.5:c.68C>T, NM_014145.5:c.68C>G, NM_014145.4:c.68C>T, NM_014145.4:c.68C>G, NM_001009924.2:c.68C>T, NM_001009924.2:c.68C>G, NM_001009924.1:c.68C>T, NM_001009924.1:c.68C>G, NM_001330984.2:c.68C>T, NM_001330984.2:c.68C>G, NM_001330984.1:c.68C>T, NM_001330984.1:c.68C>G, NM_001330985.2:c.68C>T, NM_001330985.2:c.68C>G, NM_001330985.1:c.68C>T, NM_001330985.1:c.68C>G, NM_001330986.2:c.68C>T, NM_001330986.2:c.68C>G, NM_001330986.1:c.68C>T, NM_001330986.1:c.68C>G, NM_001009923.2:c.257C>T, NM_001009923.2:c.257C>G, NM_001009923.1:c.257C>T, NM_001009923.1:c.257C>G, NM_001009925.2:c.68C>T, NM_001009925.2:c.68C>G, NM_001009925.1:c.68C>T, NM_001009925.1:c.68C>G, NM_001330987.2:c.68C>T, NM_001330987.2:c.68C>G, NM_001330987.1:c.68C>T, NM_001330987.1:c.68C>G, XR_002958478.2:n.199C>T, XR_002958478.2:n.199C>G, XR_002958478.1:n.151C>T, XR_002958478.1:n.151C>G, XR_002958484.2:n.475C>T, XR_002958484.2:n.475C>G, XR_002958484.1:n.352C>T, XR_002958484.1:n.352C>G, XR_002958476.2:n.305C>T, XR_002958476.2:n.305C>G, XR_002958476.1:n.319C>T, XR_002958476.1:n.319C>G, XR_002958479.2:n.199C>T, XR_002958479.2:n.199C>G, XR_002958479.1:n.210C>T, XR_002958479.1:n.210C>G, XM_047440132.1:c.257C>T, XM_047440132.1:c.257C>G, XR_007067454.1:n.305C>T, XR_007067454.1:n.305C>G, NP_054864.3:p.Ser23Phe, NP_054864.3:p.Ser23Cys, NP_001009924.1:p.Ser23Phe, NP_001009924.1:p.Ser23Cys, NP_001317913.1:p.Ser23Phe, NP_001317913.1:p.Ser23Cys, NP_001317914.1:p.Ser23Phe, NP_001317914.1:p.Ser23Cys, NP_001317915.1:p.Ser23Phe, NP_001317915.1:p.Ser23Cys, NP_001009923.1:p.Ser86Phe, NP_001009923.1:p.Ser86Cys, NP_001009925.1:p.Ser23Phe, NP_001009925.1:p.Ser23Cys, NP_001317916.1:p.Ser23Phe, NP_001317916.1:p.Ser23Cys, XP_047296088.1:p.Ser86Phe, XP_047296088.1:p.Ser86Cys

Select item 141090380712.

rs1410903807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5106219 (GRCh38)
20:5086865 (GRCh37)
Canonical SPDI:: NC_000020.11:5106218:G:A
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5106219G>A, NC_000020.10:g.5086865G>A, NG_053057.1:g.11869C>T, NM_014145.5:c.191C>T, NM_014145.4:c.191C>T, NM_001009924.2:c.191C>T, NM_001009924.1:c.191C>T, NM_001330984.2:c.191C>T, NM_001330984.1:c.191C>T, NM_001330985.2:c.191C>T, NM_001330985.1:c.191C>T, NM_001330986.2:c.191C>T, NM_001330986.1:c.191C>T, NM_001009923.2:c.380C>T, NM_001009923.1:c.380C>T, NM_001009925.2:c.191C>T, NM_001009925.1:c.191C>T, NM_001330987.2:c.191C>T, NM_001330987.1:c.191C>T, XR_002958478.2:n.322C>T, XR_002958478.1:n.274C>T, XR_002958484.2:n.598C>T, XR_002958484.1:n.475C>T, XR_002958476.2:n.428C>T, XR_002958476.1:n.442C>T, XR_002958479.2:n.322C>T, XR_002958479.1:n.333C>T, XR_007067454.1:n.428C>T, NP_054864.3:p.Ser64Phe, NP_001009924.1:p.Ser64Phe, NP_001317913.1:p.Ser64Phe, NP_001317914.1:p.Ser64Phe, NP_001317915.1:p.Ser64Phe, NP_001009923.1:p.Ser127Phe, NP_001009925.1:p.Ser64Phe, NP_001317916.1:p.Ser64Phe

Select item 140821961113.

rs1408219611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:5109356 (GRCh38)
20:5090002 (GRCh37)
Canonical SPDI:: NC_000020.11:5109355:T:G
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5109356T>G, NC_000020.10:g.5090002T>G, NG_053057.1:g.8732A>C, NM_014145.5:c.75A>C, NM_014145.4:c.75A>C, NM_001009924.2:c.75A>C, NM_001009924.1:c.75A>C, NM_001330984.2:c.75A>C, NM_001330984.1:c.75A>C, NM_001330985.2:c.75A>C, NM_001330985.1:c.75A>C, NM_001330986.2:c.75A>C, NM_001330986.1:c.75A>C, NM_001009923.2:c.264A>C, NM_001009923.1:c.264A>C, NM_001009925.2:c.75A>C, NM_001009925.1:c.75A>C, NM_001330987.2:c.75A>C, NM_001330987.1:c.75A>C, XR_002958478.2:n.206A>C, XR_002958478.1:n.158A>C, XR_002958484.2:n.482A>C, XR_002958484.1:n.359A>C, XR_002958476.2:n.312A>C, XR_002958476.1:n.326A>C, XR_002958479.2:n.206A>C, XR_002958479.1:n.217A>C, XM_047440132.1:c.264A>C, XR_007067454.1:n.312A>C

Select item 140590933714.

rs1405909337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5100846 (GRCh38)
20:5081492 (GRCh37)
Canonical SPDI:: NC_000020.11:5100845:G:A
Gene:: TMEM230 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5100846G>A, NC_000020.10:g.5081492G>A, NG_053057.1:g.17242C>T, NM_014145.5:c.308C>T, NM_014145.4:c.308C>T, NM_001009924.2:c.308C>T, NM_001009924.1:c.308C>T, NM_001330984.2:c.308C>T, NM_001330984.1:c.308C>T, NM_001330985.2:c.308C>T, NM_001330985.1:c.308C>T, NM_001330986.2:c.308C>T, NM_001330986.1:c.308C>T, NM_001009923.2:c.497C>T, NM_001009923.1:c.497C>T, NM_001009925.2:c.308C>T, NM_001009925.1:c.308C>T, XM_047440132.1:c.374C>T, NP_054864.3:p.Ala103Val, NP_001009924.1:p.Ala103Val, NP_001317913.1:p.Ala103Val, NP_001317914.1:p.Ala103Val, NP_001317915.1:p.Ala103Val, NP_001009923.1:p.Ala166Val, NP_001009925.1:p.Ala103Val, XP_047296088.1:p.Ala125Val

Select item 140125723415.

rs1401257234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:5100877 (GRCh38)
20:5081523 (GRCh37)
Canonical SPDI:: NC_000020.11:5100876:C:G,NC_000020.11:5100876:C:T
Gene:: TMEM230 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.5100877C>G, NC_000020.11:g.5100877C>T, NC_000020.10:g.5081523C>G, NC_000020.10:g.5081523C>T, NG_053057.1:g.17211G>C, NG_053057.1:g.17211G>A, NM_014145.5:c.277G>C, NM_014145.5:c.277G>A, NM_014145.4:c.277G>C, NM_014145.4:c.277G>A, NM_001009924.2:c.277G>C, NM_001009924.2:c.277G>A, NM_001009924.1:c.277G>C, NM_001009924.1:c.277G>A, NM_001330984.2:c.277G>C, NM_001330984.2:c.277G>A, NM_001330984.1:c.277G>C, NM_001330984.1:c.277G>A, NM_001330985.2:c.277G>C, NM_001330985.2:c.277G>A, NM_001330985.1:c.277G>C, NM_001330985.1:c.277G>A, NM_001330986.2:c.277G>C, NM_001330986.2:c.277G>A, NM_001330986.1:c.277G>C, NM_001330986.1:c.277G>A, NM_001009923.2:c.466G>C, NM_001009923.2:c.466G>A, NM_001009923.1:c.466G>C, NM_001009923.1:c.466G>A, NM_001009925.2:c.277G>C, NM_001009925.2:c.277G>A, NM_001009925.1:c.277G>C, NM_001009925.1:c.277G>A, XM_047440132.1:c.343G>C, XM_047440132.1:c.343G>A, NP_054864.3:p.Gly93Arg, NP_054864.3:p.Gly93Arg, NP_001009924.1:p.Gly93Arg, NP_001009924.1:p.Gly93Arg, NP_001317913.1:p.Gly93Arg, NP_001317913.1:p.Gly93Arg, NP_001317914.1:p.Gly93Arg, NP_001317914.1:p.Gly93Arg, NP_001317915.1:p.Gly93Arg, NP_001317915.1:p.Gly93Arg, NP_001009923.1:p.Gly156Arg, NP_001009923.1:p.Gly156Arg, NP_001009925.1:p.Gly93Arg, NP_001009925.1:p.Gly93Arg, XP_047296088.1:p.Gly115Arg, XP_047296088.1:p.Gly115Arg

Select item 139862620016.

rs1398626200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5106245 (GRCh38)
20:5086891 (GRCh37)
Canonical SPDI:: NC_000020.11:5106244:A:G
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.5106245A>G, NC_000020.10:g.5086891A>G, NG_053057.1:g.11843T>C, NM_014145.5:c.165T>C, NM_014145.4:c.165T>C, NM_001009924.2:c.165T>C, NM_001009924.1:c.165T>C, NM_001330984.2:c.165T>C, NM_001330984.1:c.165T>C, NM_001330985.2:c.165T>C, NM_001330985.1:c.165T>C, NM_001330986.2:c.165T>C, NM_001330986.1:c.165T>C, NM_001009923.2:c.354T>C, NM_001009923.1:c.354T>C, NM_001009925.2:c.165T>C, NM_001009925.1:c.165T>C, NM_001330987.2:c.165T>C, NM_001330987.1:c.165T>C, XR_002958478.2:n.296T>C, XR_002958478.1:n.248T>C, XR_002958484.2:n.572T>C, XR_002958484.1:n.449T>C, XR_002958476.2:n.402T>C, XR_002958476.1:n.416T>C, XR_002958479.2:n.296T>C, XR_002958479.1:n.307T>C, XR_007067454.1:n.402T>C

Select item 139326098717.

rs1393260987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:5106237 (GRCh38)
20:5086883 (GRCh37)
Canonical SPDI:: NC_000020.11:5106236:A:G
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00002/5 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.5106237A>G, NC_000020.10:g.5086883A>G, NG_053057.1:g.11851T>C, NM_014145.5:c.173T>C, NM_014145.4:c.173T>C, NM_001009924.2:c.173T>C, NM_001009924.1:c.173T>C, NM_001330984.2:c.173T>C, NM_001330984.1:c.173T>C, NM_001330985.2:c.173T>C, NM_001330985.1:c.173T>C, NM_001330986.2:c.173T>C, NM_001330986.1:c.173T>C, NM_001009923.2:c.362T>C, NM_001009923.1:c.362T>C, NM_001009925.2:c.173T>C, NM_001009925.1:c.173T>C, NM_001330987.2:c.173T>C, NM_001330987.1:c.173T>C, XR_002958478.2:n.304T>C, XR_002958478.1:n.256T>C, XR_002958484.2:n.580T>C, XR_002958484.1:n.457T>C, XR_002958476.2:n.410T>C, XR_002958476.1:n.424T>C, XR_002958479.2:n.304T>C, XR_002958479.1:n.315T>C, XR_007067454.1:n.410T>C, NP_054864.3:p.Phe58Ser, NP_001009924.1:p.Phe58Ser, NP_001317913.1:p.Phe58Ser, NP_001317914.1:p.Phe58Ser, NP_001317915.1:p.Phe58Ser, NP_001009923.1:p.Phe121Ser, NP_001009925.1:p.Phe58Ser, NP_001317916.1:p.Phe58Ser

Select item 138059846718.

rs1380598467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5106270 (GRCh38)
20:5086916 (GRCh37)
Canonical SPDI:: NC_000020.11:5106269:G:A
Gene:: TMEM230 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.5106270G>A, NC_000020.10:g.5086916G>A, NG_053057.1:g.11818C>T, NM_014145.5:c.140C>T, NM_014145.4:c.140C>T, NM_001009924.2:c.140C>T, NM_001009924.1:c.140C>T, NM_001330984.2:c.140C>T, NM_001330984.1:c.140C>T, NM_001330985.2:c.140C>T, NM_001330985.1:c.140C>T, NM_001330986.2:c.140C>T, NM_001330986.1:c.140C>T, NM_001009923.2:c.329C>T, NM_001009923.1:c.329C>T, NM_001009925.2:c.140C>T, NM_001009925.1:c.140C>T, NM_001330987.2:c.140C>T, NM_001330987.1:c.140C>T, XR_002958478.2:n.271C>T, XR_002958478.1:n.223C>T, XR_002958484.2:n.547C>T, XR_002958484.1:n.424C>T, XR_002958476.2:n.377C>T, XR_002958476.1:n.391C>T, XR_002958479.2:n.271C>T, XR_002958479.1:n.282C>T, XR_007067454.1:n.377C>T, NP_054864.3:p.Ala47Val, NP_001009924.1:p.Ala47Val, NP_001317913.1:p.Ala47Val, NP_001317914.1:p.Ala47Val, NP_001317915.1:p.Ala47Val, NP_001009923.1:p.Ala110Val, NP_001009925.1:p.Ala47Val, NP_001317916.1:p.Ala47Val

Select item 135841114319.

rs1358411143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:5100880 (GRCh38)
20:5081526 (GRCh37)
Canonical SPDI:: NC_000020.11:5100879:G:A,NC_000020.11:5100879:G:T
Gene:: TMEM230 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.5100880G>A, NC_000020.11:g.5100880G>T, NC_000020.10:g.5081526G>A, NC_000020.10:g.5081526G>T, NG_053057.1:g.17208C>T, NG_053057.1:g.17208C>A, NM_014145.5:c.274C>T, NM_014145.5:c.274C>A, NM_014145.4:c.274C>T, NM_014145.4:c.274C>A, NM_001009924.2:c.274C>T, NM_001009924.2:c.274C>A, NM_001009924.1:c.274C>T, NM_001009924.1:c.274C>A, NM_001330984.2:c.274C>T, NM_001330984.2:c.274C>A, NM_001330984.1:c.274C>T, NM_001330984.1:c.274C>A, NM_001330985.2:c.274C>T, NM_001330985.2:c.274C>A, NM_001330985.1:c.274C>T, NM_001330985.1:c.274C>A, NM_001330986.2:c.274C>T, NM_001330986.2:c.274C>A, NM_001330986.1:c.274C>T, NM_001330986.1:c.274C>A, NM_001009923.2:c.463C>T, NM_001009923.2:c.463C>A, NM_001009923.1:c.463C>T, NM_001009923.1:c.463C>A, NM_001009925.2:c.274C>T, NM_001009925.2:c.274C>A, NM_001009925.1:c.274C>T, NM_001009925.1:c.274C>A, XM_047440132.1:c.340C>T, XM_047440132.1:c.340C>A, NP_054864.3:p.Pro92Ser, NP_054864.3:p.Pro92Thr, NP_001009924.1:p.Pro92Ser, NP_001009924.1:p.Pro92Thr, NP_001317913.1:p.Pro92Ser, NP_001317913.1:p.Pro92Thr, NP_001317914.1:p.Pro92Ser, NP_001317914.1:p.Pro92Thr, NP_001317915.1:p.Pro92Ser, NP_001317915.1:p.Pro92Thr, NP_001009923.1:p.Pro155Ser, NP_001009923.1:p.Pro155Thr, NP_001009925.1:p.Pro92Ser, NP_001009925.1:p.Pro92Thr, XP_047296088.1:p.Pro114Ser, XP_047296088.1:p.Pro114Thr

Select item 135797244220.

rs1357972442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:5109337 (GRCh38)
20:5089983 (GRCh37)
Canonical SPDI:: NC_000020.11:5109336:G:A
Gene:: TMEM230 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000020.11:g.5109337G>A, NC_000020.10:g.5089983G>A, NG_053057.1:g.8751C>T, NM_014145.5:c.94C>T, NM_014145.4:c.94C>T, NM_001009924.2:c.94C>T, NM_001009924.1:c.94C>T, NM_001330984.2:c.94C>T, NM_001330984.1:c.94C>T, NM_001330985.2:c.94C>T, NM_001330985.1:c.94C>T, NM_001330986.2:c.94C>T, NM_001330986.1:c.94C>T, NM_001009923.2:c.283C>T, NM_001009923.1:c.283C>T, NM_001009925.2:c.94C>T, NM_001009925.1:c.94C>T, NM_001330987.2:c.94C>T, NM_001330987.1:c.94C>T, XR_002958478.2:n.225C>T, XR_002958478.1:n.177C>T, XR_002958484.2:n.501C>T, XR_002958484.1:n.378C>T, XR_002958476.2:n.331C>T, XR_002958476.1:n.345C>T, XR_002958479.2:n.225C>T, XR_002958479.1:n.236C>T, XM_047440132.1:c.283C>T, XR_007067454.1:n.331C>T, NP_054864.3:p.Leu32Phe, NP_001009924.1:p.Leu32Phe, NP_001317913.1:p.Leu32Phe, NP_001317914.1:p.Leu32Phe, NP_001317915.1:p.Leu32Phe, NP_001009923.1:p.Leu95Phe, NP_001009925.1:p.Leu32Phe, NP_001317916.1:p.Leu32Phe, XP_047296088.1:p.Leu95Phe

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