SNP Links for Protein (Select 530364503) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 272

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Select item 14891013611.

rs1489101361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150263056 (GRCh38)
1:150235455 (GRCh37)
Canonical SPDI:: NC_000001.11:150263055:G:C
Gene:: CA14 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150263056G>C, NW_003871055.3:g.7078469G>C, NC_000001.10:g.150235455G>C, XM_005245059.4:c.577G>C, XM_005245059.3:c.577G>C, XM_005245059.2:c.577G>C, XM_005245059.1:c.577G>C, XM_011509379.4:c.535G>C, XM_011509379.3:c.535G>C, XM_011509379.2:c.535G>C, XM_011509379.1:c.535G>C, XM_005245060.4:c.577G>C, XM_005245060.3:c.577G>C, XM_005245060.2:c.577G>C, XM_005245060.1:c.577G>C, XM_006711259.4:c.577G>C, XM_006711259.3:c.577G>C, XM_006711259.2:c.577G>C, XM_006711259.1:c.577G>C, XM_006711261.4:c.409G>C, XM_006711261.3:c.409G>C, XM_006711261.2:c.409G>C, XM_006711261.1:c.409G>C, NM_012113.3:c.577G>C, NM_012113.2:c.577G>C, NM_012113.1:c.577G>C, XP_005245116.1:p.Val193Leu, XP_011507681.1:p.Val179Leu, XP_005245117.1:p.Val193Leu, XP_006711322.1:p.Val193Leu, XP_006711324.1:p.Val137Leu, NP_036245.1:p.Val193Leu

Select item 14754775752.

rs1475477575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150261601 (GRCh38)
1:150234000 (GRCh37)
Canonical SPDI:: NC_000001.11:150261600:C:T
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150261601C>T, NW_003871055.3:g.7077014C>T, NC_000001.10:g.150234000C>T, XM_005245059.4:c.219C>T, XM_005245059.3:c.219C>T, XM_005245059.2:c.219C>T, XM_005245059.1:c.219C>T, XM_011509379.4:c.177C>T, XM_011509379.3:c.177C>T, XM_011509379.2:c.177C>T, XM_011509379.1:c.177C>T, XM_005245060.4:c.219C>T, XM_005245060.3:c.219C>T, XM_005245060.2:c.219C>T, XM_005245060.1:c.219C>T, XM_006711259.4:c.219C>T, XM_006711259.3:c.219C>T, XM_006711259.2:c.219C>T, XM_006711259.1:c.219C>T, XM_006711261.4:c.51C>T, XM_006711261.3:c.51C>T, XM_006711261.2:c.51C>T, XM_006711261.1:c.51C>T, NM_012113.3:c.219C>T, NM_012113.2:c.219C>T, NM_012113.1:c.219C>T, XM_017000894.3:c.219C>T, XM_017000894.2:c.219C>T, XM_017000894.1:c.219C>T

Select item 14754505343.

rs1475450534 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:150262840 (GRCh38)
1:150235239 (GRCh37)
Canonical SPDI:: NC_000001.11:150262838:TCT:T
Gene:: CA14 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150262840_150262841del, NW_003871055.3:g.7078253_7078254del, NC_000001.10:g.150235239_150235240del, XM_005245059.4:c.532_533del, XM_005245059.3:c.532_533del, XM_005245059.2:c.532_533del, XM_005245059.1:c.532_533del, XM_011509379.4:c.490_491del, XM_011509379.3:c.490_491del, XM_011509379.2:c.490_491del, XM_011509379.1:c.490_491del, XM_005245060.4:c.532_533del, XM_005245060.3:c.532_533del, XM_005245060.2:c.532_533del, XM_005245060.1:c.532_533del, XM_006711259.4:c.532_533del, XM_006711259.3:c.532_533del, XM_006711259.2:c.532_533del, XM_006711259.1:c.532_533del, XM_006711261.4:c.364_365del, XM_006711261.3:c.364_365del, XM_006711261.2:c.364_365del, XM_006711261.1:c.364_365del, NM_012113.3:c.532_533del, NM_012113.2:c.532_533del, NM_012113.1:c.532_533del, XP_005245116.1:p.Leu178fs, XP_011507681.1:p.Leu164fs, XP_005245117.1:p.Leu178fs, XP_006711322.1:p.Leu178fs, XP_006711324.1:p.Leu122fs, NP_036245.1:p.Leu178fs

Select item 14698658424.

rs1469865842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150258174 (GRCh38)
1:150230569 (GRCh37)
Canonical SPDI:: NC_000001.11:150258173:G:A
Gene:: CA14 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/5 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000001.11:g.150258174G>A, NW_003871055.3:g.7073587G>A, NC_000001.10:g.150230569G>A, XM_005245059.4:c.46G>A, XM_005245059.3:c.46G>A, XM_005245059.2:c.46G>A, XM_005245059.1:c.46G>A, XM_011509379.4:c.46G>A, XM_011509379.3:c.46G>A, XM_011509379.2:c.46G>A, XM_011509379.1:c.46G>A, XM_005245060.4:c.46G>A, XM_005245060.3:c.46G>A, XM_005245060.2:c.46G>A, XM_005245060.1:c.46G>A, XM_006711259.4:c.46G>A, XM_006711259.3:c.46G>A, XM_006711259.2:c.46G>A, XM_006711259.1:c.46G>A, XM_006711261.4:c.-4G>A, XM_006711261.3:c.-4G>A, XM_006711261.2:c.-4G>A, XM_006711261.1:c.-4G>A, NM_012113.3:c.46G>A, NM_012113.2:c.46G>A, NM_012113.1:c.46G>A, XM_017000894.3:c.46G>A, XM_017000894.2:c.46G>A, XM_017000894.1:c.46G>A, XP_005245116.1:p.Ala16Thr, XP_011507681.1:p.Ala16Thr, XP_005245117.1:p.Ala16Thr, XP_006711322.1:p.Ala16Thr, NP_036245.1:p.Ala16Thr, XP_016856383.1:p.Ala16Thr

Select item 14684343565.

rs1468434356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150263860 (GRCh38)
1:150236259 (GRCh37)
Canonical SPDI:: NC_000001.11:150263859:T:C
Gene:: CA14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150263860T>C, NW_003871055.3:g.7079273T>C, NG_029952.2:g.10156A>G, NG_029952.1:g.10351A>G, NC_000001.10:g.150236259T>C, XM_005245059.4:c.926T>C, XM_005245059.3:c.926T>C, XM_005245059.2:c.926T>C, XM_005245059.1:c.926T>C, XM_011509379.4:c.887T>C, XM_011509379.3:c.887T>C, XM_011509379.2:c.887T>C, XM_011509379.1:c.887T>C, XM_006711261.4:c.761T>C, XM_006711261.3:c.761T>C, XM_006711261.2:c.761T>C, XM_006711261.1:c.761T>C, NM_012113.3:c.929T>C, NM_012113.2:c.929T>C, NM_012113.1:c.929T>C, XM_017000894.3:c.704T>C, XM_017000894.2:c.704T>C, XM_017000894.1:c.704T>C, XP_005245116.1:p.Phe309Ser, XP_011507681.1:p.Phe296Ser, XP_006711324.1:p.Phe254Ser, NP_036245.1:p.Phe310Ser, XP_016856383.1:p.Phe235Ser

Select item 14521545276.

rs1452154527 has merged into rs782104548 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 1:150263048 (GRCh38)
1:150235447 (GRCh37)
Canonical SPDI:: NC_000001.11:150263044:AGAAGA:AGA
Gene:: CA14 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAGA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000025/3 (ExAC)
-=0.000036/9 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150263045AGA[1], NW_003871055.3:g.7078458AGA[1], NC_000001.10:g.150235444AGA[1], XM_005245059.4:c.566AGA[1], XM_005245059.3:c.566AGA[1], XM_005245059.2:c.566AGA[1], XM_005245059.1:c.566AGA[1], XM_011509379.4:c.524AGA[1], XM_011509379.3:c.524AGA[1], XM_011509379.2:c.524AGA[1], XM_011509379.1:c.524AGA[1], XM_005245060.4:c.566AGA[1], XM_005245060.3:c.566AGA[1], XM_005245060.2:c.566AGA[1], XM_005245060.1:c.566AGA[1], XM_006711259.4:c.566AGA[1], XM_006711259.3:c.566AGA[1], XM_006711259.2:c.566AGA[1], XM_006711259.1:c.566AGA[1], XM_006711261.4:c.398AGA[1], XM_006711261.3:c.398AGA[1], XM_006711261.2:c.398AGA[1], XM_006711261.1:c.398AGA[1], NM_012113.3:c.566AGA[1], NM_012113.2:c.566AGA[1], NM_012113.1:c.566AGA[1], XP_005245116.1:p.Lys190del, XP_011507681.1:p.Lys176del, XP_005245117.1:p.Lys190del, XP_006711322.1:p.Lys190del, XP_006711324.1:p.Lys134del, NP_036245.1:p.Lys190del

Select item 14509087877.

rs1450908787 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150263850 (GRCh38)
1:150236249 (GRCh37)
Canonical SPDI:: NC_000001.11:150263849:G:A
Gene:: CA14 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150263850G>A, NW_003871055.3:g.7079263G>A, NG_029952.2:g.10166C>T, NG_029952.1:g.10361C>T, NC_000001.10:g.150236249G>A, XM_005245059.4:c.916G>A, XM_005245059.3:c.916G>A, XM_005245059.2:c.916G>A, XM_005245059.1:c.916G>A, XM_011509379.4:c.877G>A, XM_011509379.3:c.877G>A, XM_011509379.2:c.877G>A, XM_011509379.1:c.877G>A, XM_006711261.4:c.751G>A, XM_006711261.3:c.751G>A, XM_006711261.2:c.751G>A, XM_006711261.1:c.751G>A, NM_012113.3:c.919G>A, NM_012113.2:c.919G>A, NM_012113.1:c.919G>A, XM_017000894.3:c.694G>A, XM_017000894.2:c.694G>A, XM_017000894.1:c.694G>A, XP_005245116.1:p.Ala306Thr, XP_011507681.1:p.Ala293Thr, XP_006711324.1:p.Ala251Thr, NP_036245.1:p.Ala307Thr, XP_016856383.1:p.Ala232Thr

Select item 14401096548.

rs1440109654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150263810 (GRCh38)
1:150236209 (GRCh37)
Canonical SPDI:: NC_000001.11:150263809:A:G
Gene:: CA14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150263810A>G, NW_003871055.3:g.7079223A>G, NG_029952.2:g.10206T>C, NG_029952.1:g.10401T>C, NC_000001.10:g.150236209A>G, XM_005245059.4:c.876A>G, XM_005245059.3:c.876A>G, XM_005245059.2:c.876A>G, XM_005245059.1:c.876A>G, XM_011509379.4:c.837A>G, XM_011509379.3:c.837A>G, XM_011509379.2:c.837A>G, XM_011509379.1:c.837A>G, XM_006711261.4:c.711A>G, XM_006711261.3:c.711A>G, XM_006711261.2:c.711A>G, XM_006711261.1:c.711A>G, NM_012113.3:c.879A>G, NM_012113.2:c.879A>G, NM_012113.1:c.879A>G, XM_017000894.3:c.654A>G, XM_017000894.2:c.654A>G, XM_017000894.1:c.654A>G

Select item 14398436739.

rs1439843673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:150258137 (GRCh38)
1:150230532 (GRCh37)
Canonical SPDI:: NC_000001.11:150258136:C:A,NC_000001.11:150258136:C:T
Gene:: CA14 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150258137C>A, NC_000001.11:g.150258137C>T, NW_003871055.3:g.7073550C>A, NW_003871055.3:g.7073550C>T, NC_000001.10:g.150230532C>A, NC_000001.10:g.150230532C>T, XM_005245059.4:c.9C>A, XM_005245059.4:c.9C>T, XM_005245059.3:c.9C>A, XM_005245059.3:c.9C>T, XM_005245059.2:c.9C>A, XM_005245059.2:c.9C>T, XM_005245059.1:c.9C>A, XM_005245059.1:c.9C>T, XM_011509379.4:c.9C>A, XM_011509379.4:c.9C>T, XM_011509379.3:c.9C>A, XM_011509379.3:c.9C>T, XM_011509379.2:c.9C>A, XM_011509379.2:c.9C>T, XM_011509379.1:c.9C>A, XM_011509379.1:c.9C>T, XM_005245060.4:c.9C>A, XM_005245060.4:c.9C>T, XM_005245060.3:c.9C>A, XM_005245060.3:c.9C>T, XM_005245060.2:c.9C>A, XM_005245060.2:c.9C>T, XM_005245060.1:c.9C>A, XM_005245060.1:c.9C>T, XM_006711259.4:c.9C>A, XM_006711259.4:c.9C>T, XM_006711259.3:c.9C>A, XM_006711259.3:c.9C>T, XM_006711259.2:c.9C>A, XM_006711259.2:c.9C>T, XM_006711259.1:c.9C>A, XM_006711259.1:c.9C>T, XM_006711261.4:c.-41C>A, XM_006711261.4:c.-41C>T, XM_006711261.3:c.-41C>A, XM_006711261.3:c.-41C>T, XM_006711261.2:c.-41C>A, XM_006711261.2:c.-41C>T, XM_006711261.1:c.-41C>A, XM_006711261.1:c.-41C>T, NM_012113.3:c.9C>A, NM_012113.3:c.9C>T, NM_012113.2:c.9C>A, NM_012113.2:c.9C>T, NM_012113.1:c.9C>A, NM_012113.1:c.9C>T, XM_017000894.3:c.9C>A, XM_017000894.3:c.9C>T, XM_017000894.2:c.9C>A, XM_017000894.2:c.9C>T, XM_017000894.1:c.9C>A, XM_017000894.1:c.9C>T, XP_005245116.1:p.Phe3Leu, XP_011507681.1:p.Phe3Leu, XP_005245117.1:p.Phe3Leu, XP_006711322.1:p.Phe3Leu, NP_036245.1:p.Phe3Leu, XP_016856383.1:p.Phe3Leu

Select item 143678860210.

rs1436788602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150262551 (GRCh38)
1:150234950 (GRCh37)
Canonical SPDI:: NC_000001.11:150262550:T:C
Gene:: CA14 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150262551T>C, NW_003871055.3:g.7077964T>C, NC_000001.10:g.150234950T>C, XM_005245059.4:c.426T>C, XM_005245059.3:c.426T>C, XM_005245059.2:c.426T>C, XM_005245059.1:c.426T>C, XM_011509379.4:c.384T>C, XM_011509379.3:c.384T>C, XM_011509379.2:c.384T>C, XM_011509379.1:c.384T>C, XM_005245060.4:c.426T>C, XM_005245060.3:c.426T>C, XM_005245060.2:c.426T>C, XM_005245060.1:c.426T>C, XM_006711259.4:c.426T>C, XM_006711259.3:c.426T>C, XM_006711259.2:c.426T>C, XM_006711259.1:c.426T>C, XM_006711261.4:c.258T>C, XM_006711261.3:c.258T>C, XM_006711261.2:c.258T>C, XM_006711261.1:c.258T>C, NM_012113.3:c.426T>C, NM_012113.2:c.426T>C, NM_012113.1:c.426T>C, XM_017000894.3:c.426T>C, XM_017000894.2:c.426T>C, XM_017000894.1:c.426T>C

Select item 142913118411.

rs1429131184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150261557 (GRCh38)
1:150233956 (GRCh37)
Canonical SPDI:: NC_000001.11:150261556:C:A
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.150261557C>A, NW_003871055.3:g.7076970C>A, NC_000001.10:g.150233956C>A, XM_005245059.4:c.175C>A, XM_005245059.3:c.175C>A, XM_005245059.2:c.175C>A, XM_005245059.1:c.175C>A, XM_005245060.4:c.175C>A, XM_005245060.3:c.175C>A, XM_005245060.2:c.175C>A, XM_005245060.1:c.175C>A, XM_006711259.4:c.175C>A, XM_006711259.3:c.175C>A, XM_006711259.2:c.175C>A, XM_006711259.1:c.175C>A, NM_012113.3:c.175C>A, NM_012113.2:c.175C>A, NM_012113.1:c.175C>A, XM_017000894.3:c.175C>A, XM_017000894.2:c.175C>A, XM_017000894.1:c.175C>A, XP_005245116.1:p.Pro59Thr, XP_005245117.1:p.Pro59Thr, XP_006711322.1:p.Pro59Thr, NP_036245.1:p.Pro59Thr, XP_016856383.1:p.Pro59Thr

Select item 142815890712.

rs1428158907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150263339 (GRCh38)
1:150235738 (GRCh37)
Canonical SPDI:: NC_000001.11:150263338:A:G
Gene:: CA14 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.150263339A>G, NW_003871055.3:g.7078752A>G, NC_000001.10:g.150235738A>G, XM_005245059.4:c.761A>G, XM_005245059.3:c.761A>G, XM_005245059.2:c.761A>G, XM_005245059.1:c.761A>G, XM_011509379.4:c.719A>G, XM_011509379.3:c.719A>G, XM_011509379.2:c.719A>G, XM_011509379.1:c.719A>G, XM_005245060.4:c.761A>G, XM_005245060.3:c.761A>G, XM_005245060.2:c.761A>G, XM_005245060.1:c.761A>G, XM_006711259.4:c.761A>G, XM_006711259.3:c.761A>G, XM_006711259.2:c.761A>G, XM_006711259.1:c.761A>G, XM_006711261.4:c.593A>G, XM_006711261.3:c.593A>G, XM_006711261.2:c.593A>G, XM_006711261.1:c.593A>G, NM_012113.3:c.761A>G, NM_012113.2:c.761A>G, NM_012113.1:c.761A>G, XM_017000894.3:c.536A>G, XM_017000894.2:c.536A>G, XM_017000894.1:c.536A>G, XP_005245116.1:p.Glu254Gly, XP_011507681.1:p.Glu240Gly, XP_005245117.1:p.Glu254Gly, XP_006711322.1:p.Glu254Gly, XP_006711324.1:p.Glu198Gly, NP_036245.1:p.Glu254Gly, XP_016856383.1:p.Glu179Gly

Select item 142491229513.

rs1424912295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150264619 (GRCh38)
1:150237019 (GRCh37)
Canonical SPDI:: NC_000001.11:150264618:G:C
Gene:: CA14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150264619G>C, NW_003871055.3:g.7080032G>C, NG_029952.2:g.9397C>G, NG_029952.1:g.9591C>G, NC_000001.10:g.150237019G>C, XM_005245059.4:c.971G>C, XM_005245059.3:c.971G>C, XM_005245059.2:c.971G>C, XM_005245059.1:c.971G>C, XM_011509379.4:c.932G>C, XM_011509379.3:c.932G>C, XM_011509379.2:c.932G>C, XM_011509379.1:c.932G>C, XM_005245060.4:c.889G>C, XM_005245060.3:c.889G>C, XM_005245060.2:c.889G>C, XM_005245060.1:c.889G>C, XM_006711259.4:c.886G>C, XM_006711259.3:c.886G>C, XM_006711259.2:c.886G>C, XM_006711259.1:c.886G>C, XM_006711261.4:c.806G>C, XM_006711261.3:c.806G>C, XM_006711261.2:c.806G>C, XM_006711261.1:c.806G>C, NM_012113.3:c.974G>C, NM_012113.2:c.974G>C, NM_012113.1:c.974G>C, XM_017000894.3:c.749G>C, XM_017000894.2:c.749G>C, XM_017000894.1:c.749G>C, XP_005245116.1:p.Ser324Thr, XP_011507681.1:p.Ser311Thr, XP_005245117.1:p.Val297Leu, XP_006711322.1:p.Val296Leu, XP_006711324.1:p.Ser269Thr, NP_036245.1:p.Ser325Thr, XP_016856383.1:p.Ser250Thr

Select item 142289405414.

rs1422894054 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:150261603 (GRCh38)
1:150234002 (GRCh37)
Canonical SPDI:: NC_000001.11:150261602:C:A,NC_000001.11:150261602:C:G,NC_000001.11:150261602:C:T
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.150261603C>A, NC_000001.11:g.150261603C>G, NC_000001.11:g.150261603C>T, NW_003871055.3:g.7077016C>A, NW_003871055.3:g.7077016C>G, NW_003871055.3:g.7077016C>T, NC_000001.10:g.150234002C>A, NC_000001.10:g.150234002C>G, NC_000001.10:g.150234002C>T, XM_005245059.4:c.221C>A, XM_005245059.4:c.221C>G, XM_005245059.4:c.221C>T, XM_005245059.3:c.221C>A, XM_005245059.3:c.221C>G, XM_005245059.3:c.221C>T, XM_005245059.2:c.221C>A, XM_005245059.2:c.221C>G, XM_005245059.2:c.221C>T, XM_005245059.1:c.221C>A, XM_005245059.1:c.221C>G, XM_005245059.1:c.221C>T, XM_011509379.4:c.179C>A, XM_011509379.4:c.179C>G, XM_011509379.4:c.179C>T, XM_011509379.3:c.179C>A, XM_011509379.3:c.179C>G, XM_011509379.3:c.179C>T, XM_011509379.2:c.179C>A, XM_011509379.2:c.179C>G, XM_011509379.2:c.179C>T, XM_011509379.1:c.179C>A, XM_011509379.1:c.179C>G, XM_011509379.1:c.179C>T, XM_005245060.4:c.221C>A, XM_005245060.4:c.221C>G, XM_005245060.4:c.221C>T, XM_005245060.3:c.221C>A, XM_005245060.3:c.221C>G, XM_005245060.3:c.221C>T, XM_005245060.2:c.221C>A, XM_005245060.2:c.221C>G, XM_005245060.2:c.221C>T, XM_005245060.1:c.221C>A, XM_005245060.1:c.221C>G, XM_005245060.1:c.221C>T, XM_006711259.4:c.221C>A, XM_006711259.4:c.221C>G, XM_006711259.4:c.221C>T, XM_006711259.3:c.221C>A, XM_006711259.3:c.221C>G, XM_006711259.3:c.221C>T, XM_006711259.2:c.221C>A, XM_006711259.2:c.221C>G, XM_006711259.2:c.221C>T, XM_006711259.1:c.221C>A, XM_006711259.1:c.221C>G, XM_006711259.1:c.221C>T, XM_006711261.4:c.53C>A, XM_006711261.4:c.53C>G, XM_006711261.4:c.53C>T, XM_006711261.3:c.53C>A, XM_006711261.3:c.53C>G, XM_006711261.3:c.53C>T, XM_006711261.2:c.53C>A, XM_006711261.2:c.53C>G, XM_006711261.2:c.53C>T, XM_006711261.1:c.53C>A, XM_006711261.1:c.53C>G, XM_006711261.1:c.53C>T, NM_012113.3:c.221C>A, NM_012113.3:c.221C>G, NM_012113.3:c.221C>T, NM_012113.2:c.221C>A, NM_012113.2:c.221C>G, NM_012113.2:c.221C>T, NM_012113.1:c.221C>A, NM_012113.1:c.221C>G, NM_012113.1:c.221C>T, XM_017000894.3:c.221C>A, XM_017000894.3:c.221C>G, XM_017000894.3:c.221C>T, XM_017000894.2:c.221C>A, XM_017000894.2:c.221C>G, XM_017000894.2:c.221C>T, XM_017000894.1:c.221C>A, XM_017000894.1:c.221C>G, XM_017000894.1:c.221C>T, XP_005245116.1:p.Thr74Asn, XP_005245116.1:p.Thr74Ser, XP_005245116.1:p.Thr74Ile, XP_011507681.1:p.Thr60Asn, XP_011507681.1:p.Thr60Ser, XP_011507681.1:p.Thr60Ile, XP_005245117.1:p.Thr74Asn, XP_005245117.1:p.Thr74Ser, XP_005245117.1:p.Thr74Ile, XP_006711322.1:p.Thr74Asn, XP_006711322.1:p.Thr74Ser, XP_006711322.1:p.Thr74Ile, XP_006711324.1:p.Thr18Asn, XP_006711324.1:p.Thr18Ser, XP_006711324.1:p.Thr18Ile, NP_036245.1:p.Thr74Asn, NP_036245.1:p.Thr74Ser, NP_036245.1:p.Thr74Ile, XP_016856383.1:p.Thr74Asn, XP_016856383.1:p.Thr74Ser, XP_016856383.1:p.Thr74Ile

Select item 142072369415.

rs1420723694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150262165 (GRCh38)
1:150234564 (GRCh37)
Canonical SPDI:: NC_000001.11:150262164:C:G
Gene:: CA14 (Varview), SNORD13C (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,synonymous_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150262165C>G, NW_003871055.3:g.7077578C>G, NC_000001.10:g.150234564C>G, XM_005245059.4:c.264C>G, XM_005245059.3:c.264C>G, XM_005245059.2:c.264C>G, XM_005245059.1:c.264C>G, XM_011509379.4:c.222C>G, XM_011509379.3:c.222C>G, XM_011509379.2:c.222C>G, XM_011509379.1:c.222C>G, XM_005245060.4:c.264C>G, XM_005245060.3:c.264C>G, XM_005245060.2:c.264C>G, XM_005245060.1:c.264C>G, XM_006711259.4:c.264C>G, XM_006711259.3:c.264C>G, XM_006711259.2:c.264C>G, XM_006711259.1:c.264C>G, XM_006711261.4:c.96C>G, XM_006711261.3:c.96C>G, XM_006711261.2:c.96C>G, XM_006711261.1:c.96C>G, NM_012113.3:c.264C>G, NM_012113.2:c.264C>G, NM_012113.1:c.264C>G, XM_017000894.3:c.264C>G, XM_017000894.2:c.264C>G, XM_017000894.1:c.264C>G

Select item 141850685616.

rs1418506856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150263826 (GRCh38)
1:150236225 (GRCh37)
Canonical SPDI:: NC_000001.11:150263825:G:A
Gene:: CA14 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150263826G>A, NW_003871055.3:g.7079239G>A, NG_029952.2:g.10190C>T, NG_029952.1:g.10385C>T, NC_000001.10:g.150236225G>A, XM_005245059.4:c.892G>A, XM_005245059.3:c.892G>A, XM_005245059.2:c.892G>A, XM_005245059.1:c.892G>A, XM_011509379.4:c.853G>A, XM_011509379.3:c.853G>A, XM_011509379.2:c.853G>A, XM_011509379.1:c.853G>A, XM_006711261.4:c.727G>A, XM_006711261.3:c.727G>A, XM_006711261.2:c.727G>A, XM_006711261.1:c.727G>A, NM_012113.3:c.895G>A, NM_012113.2:c.895G>A, NM_012113.1:c.895G>A, XM_017000894.3:c.670G>A, XM_017000894.2:c.670G>A, XM_017000894.1:c.670G>A, XP_005245116.1:p.Val298Ile, XP_011507681.1:p.Val285Ile, XP_006711324.1:p.Val243Ile, NP_036245.1:p.Val299Ile, XP_016856383.1:p.Val224Ile

Select item 141550546417.

rs1415505464 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150262828 (GRCh38)
1:150235227 (GRCh37)
Canonical SPDI:: NC_000001.11:150262827:T:C
Gene:: CA14 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150262828T>C, NW_003871055.3:g.7078241T>C, NC_000001.10:g.150235227T>C, XM_005245059.4:c.520T>C, XM_005245059.3:c.520T>C, XM_005245059.2:c.520T>C, XM_005245059.1:c.520T>C, XM_011509379.4:c.478T>C, XM_011509379.3:c.478T>C, XM_011509379.2:c.478T>C, XM_011509379.1:c.478T>C, XM_005245060.4:c.520T>C, XM_005245060.3:c.520T>C, XM_005245060.2:c.520T>C, XM_005245060.1:c.520T>C, XM_006711259.4:c.520T>C, XM_006711259.3:c.520T>C, XM_006711259.2:c.520T>C, XM_006711259.1:c.520T>C, XM_006711261.4:c.352T>C, XM_006711261.3:c.352T>C, XM_006711261.2:c.352T>C, XM_006711261.1:c.352T>C, NM_012113.3:c.520T>C, NM_012113.2:c.520T>C, NM_012113.1:c.520T>C, XP_005245116.1:p.Tyr174His, XP_011507681.1:p.Tyr160His, XP_005245117.1:p.Tyr174His, XP_006711322.1:p.Tyr174His, XP_006711324.1:p.Tyr118His, NP_036245.1:p.Tyr174His

Select item 141098841918.

rs1410988419 has merged into rs782576350 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:150262547 (GRCh38)
1:150234946 (GRCh37)
Canonical SPDI:: NC_000001.11:150262544:CTCT:CT
Gene:: CA14 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.000025/3 (ExAC)
-=0.000032/8 (GnomAD_exomes)
-=0.000064/9 (GnomAD)
-=0.000076/20 (TOPMED)
-=0.000539/2 (TWINSUK)
-=0.000559/7 (GoESP)
HGVS:: NC_000001.11:g.150262545CT[1], NW_003871055.3:g.7077958CT[1], NC_000001.10:g.150234944CT[1], XM_005245059.4:c.422_423del, XM_005245059.3:c.422_423del, XM_005245059.2:c.422_423del, XM_005245059.1:c.422_423del, XM_011509379.4:c.380_381del, XM_011509379.3:c.380_381del, XM_011509379.2:c.380_381del, XM_011509379.1:c.380_381del, XM_005245060.4:c.422_423del, XM_005245060.3:c.422_423del, XM_005245060.2:c.422_423del, XM_005245060.1:c.422_423del, XM_006711259.4:c.422_423del, XM_006711259.3:c.422_423del, XM_006711259.2:c.422_423del, XM_006711259.1:c.422_423del, XM_006711261.4:c.254_255del, XM_006711261.3:c.254_255del, XM_006711261.2:c.254_255del, XM_006711261.1:c.254_255del, NM_012113.3:c.422_423del, NM_012113.2:c.422_423del, NM_012113.1:c.422_423del, XM_017000894.3:c.422_423del, XM_017000894.2:c.422_423del, XM_017000894.1:c.422_423del, XP_005245116.1:p.Asp140_Ser141insTer, XP_011507681.1:p.Asp126_Ser127insTer, XP_005245117.1:p.Asp140_Ser141insTer, XP_006711322.1:p.Asp140_Ser141insTer, XP_006711324.1:p.Asp84_Ser85insTer, NP_036245.1:p.Asp140_Ser141insTer, XP_016856383.1:p.Asp140_Ser141insTer

Select item 141049726619.

rs1410497266 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:150258180 (GRCh38)
1:150230575 (GRCh37)
Canonical SPDI:: NC_000001.11:150258179:GGGGG:GGGG
Gene:: CA14 (Varview)
Functional Consequence:: initiator_codon_variant,splice_donor_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150258184del, NW_003871055.3:g.7073597del, NC_000001.10:g.150230579del

Select item 140580623920.

rs1405806239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150263821 (GRCh38)
1:150236220 (GRCh37)
Canonical SPDI:: NC_000001.11:150263820:T:C
Gene:: CA14 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150263821T>C, NW_003871055.3:g.7079234T>C, NG_029952.2:g.10195A>G, NG_029952.1:g.10390A>G, NC_000001.10:g.150236220T>C, XM_005245059.4:c.887T>C, XM_005245059.3:c.887T>C, XM_005245059.2:c.887T>C, XM_005245059.1:c.887T>C, XM_011509379.4:c.848T>C, XM_011509379.3:c.848T>C, XM_011509379.2:c.848T>C, XM_011509379.1:c.848T>C, XM_006711261.4:c.722T>C, XM_006711261.3:c.722T>C, XM_006711261.2:c.722T>C, XM_006711261.1:c.722T>C, NM_012113.3:c.890T>C, NM_012113.2:c.890T>C, NM_012113.1:c.890T>C, XM_017000894.3:c.665T>C, XM_017000894.2:c.665T>C, XM_017000894.1:c.665T>C, XP_005245116.1:p.Ile296Thr, XP_011507681.1:p.Ile283Thr, XP_006711324.1:p.Ile241Thr, NP_036245.1:p.Ile297Thr, XP_016856383.1:p.Ile222Thr

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