Linked Data
ClinVar Variation Id:
310616
ClinVar RCV Id:
RCV000311480
RCV000315150
RCV000351341
RCV000357069
RCV000390499
RCV002461069
RCV000860718
RCV001833458
RCV002467729
dbSNP Id:
rs199747962
ExAC:
12:88508876 T / A
gnomAD v2:
12-88508876-T-A
gnomAD v3:
12-88115099-T-A
gnomAD v4:
12-88115099-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88115099T>A , CM000674.2:g.88115099T>A | GRCh38 |
| NC_000012.11:g.88508876T>A , CM000674.1:g.88508876T>A | GRCh37 |
| NC_000012.10:g.87033007T>A | NCBI36 |
| NG_008417.1:g.32118A>T | |
| NG_008417.2:g.32118A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.1908A>T | ENSP00000308021.8:p.Lys636Asn | |
| ENST00000547926.7:c.1908A>T | ENSP00000448573.3:p.Lys636Asn | |
| ENST00000552810.6:c.1908A>T MANE Select | ENSP00000448012.1:p.Lys636Asn | |
| ENST00000671822.2:n.3464A>T | ||
| ENST00000672414.2:c.*79A>T | ENSP00000500729.1:n.*79A>T | |
| ENST00000673058.2:c.1908A>T | ENSP00000500665.2:p.Lys636Asn | |
| ENST00000674971.1:c.1908A>T | ENSP00000502194.1:p.Lys636Asn | |
| ENST00000675230.1:c.1887A>T | ENSP00000502503.1:p.Lys629Asn | |
| ENST00000675408.1:c.1908A>T | ENSP00000502298.1:p.Lys636Asn | |
| ENST00000675476.1:c.2769A>T | ENSP00000502161.1:p.Lys923Asn | |
| ENST00000675628.1:n.2135A>T | ||
| ENST00000675794.1:c.*79A>T | ENSP00000502841.1:n.*79A>T | |
| ENST00000675833.1:c.2676A>T | ENSP00000502559.1:p.Lys892Asn | |
| ENST00000676074.1:c.1908A>T | ENSP00000502079.1:p.Lys636Asn | |
| ENST00000676351.1:c.*2863A>T | ENSP00000502046.1:n.*2863A>T | |
| ENST00000676363.1:n.3971A>T | ||
| ENST00000676448.1:c.1908A>T | ENSP00000501987.1:p.Lys636Asn | |
| ENST00000309041.11:c.1914A>T | ENSP00000308021.7:p.Lys638Asn | |
| ENST00000397838.7:c.1914A>T | ENSP00000380938.4:p.Lys638Asn | |
| ENST00000547926.6:c.1806A>T | ENSP00000448573.2:p.Lys602Asn | |
| ENST00000552810.5:c.1908A>T | ENSP00000448012.1:p.Lys636Asn | |
| ENST00000604024.5:c.1167A>T | ENSP00000473863.1:p.Lys389Asn | |
| NM_025114.3:c.1908A>T | NP_079390.3:p.Lys636Asn | |
| XM_011538756.1:c.2769A>T | XP_011537058.1:p.Lys923Asn | |
| XM_011538757.1:c.2769A>T | XP_011537059.1:p.Lys923Asn | |
| XM_011538758.1:c.2769A>T | XP_011537060.1:p.Lys923Asn | |
| XM_011538759.1:c.2769A>T | XP_011537061.1:p.Lys923Asn | |
| XM_011538760.1:c.2769A>T | XP_011537062.1:p.Lys923Asn | |
| XM_011538761.1:c.2769A>T | XP_011537063.1:p.Lys923Asn | |
| XM_011538762.1:c.2001A>T | XP_011537064.1:p.Lys667Asn | |
| XM_011538763.1:c.1908A>T | XP_011537065.1:p.Lys636Asn | |
| XM_011538764.1:c.2769A>T | XP_011537066.1:p.Lys923Asn | |
| XM_011538765.1:c.2769A>T | XP_011537067.1:p.Lys923Asn | |
| XM_011538766.1:c.1230A>T | XP_011537068.1:p.Lys410Asn | |
| XM_011538756.3:c.2769A>T | XP_011537058.1:p.Lys923Asn | |
| XM_011538757.3:c.2769A>T | XP_011537059.1:p.Lys923Asn | |
| XM_011538758.3:c.2769A>T | XP_011537060.1:p.Lys923Asn | |
| XM_011538759.2:c.2769A>T | XP_011537061.1:p.Lys923Asn | |
| XM_011538760.2:c.2769A>T | XP_011537062.1:p.Lys923Asn | |
| XM_011538761.2:c.2769A>T | XP_011537063.1:p.Lys923Asn | |
| XM_011538762.3:c.2001A>T | XP_011537064.1:p.Lys667Asn | |
| XM_011538763.3:c.1908A>T | XP_011537065.1:p.Lys636Asn | |
| XM_011538764.3:c.2769A>T | XP_011537066.1:p.Lys923Asn | |
| XM_011538765.3:c.2769A>T | XP_011537067.1:p.Lys923Asn | |
| XM_011538766.3:c.1230A>T | XP_011537068.1:p.Lys410Asn | |
| XM_017019980.2:c.2769A>T | XP_016875469.1:p.Lys923Asn | |
| XM_017019981.2:c.2769A>T | XP_016875470.1:p.Lys923Asn | |
| XM_017019982.1:c.2769A>T | XP_016875471.1:p.Lys923Asn | |
| XM_017019983.2:c.1887A>T | XP_016875472.1:p.Lys629Asn | |
| XR_001748869.1:n.3113A>T | ||
| XR_001748870.2:n.3113A>T | ||
| NM_025114.4:c.1908A>T MANE Select | NP_079390.3:p.Lys636Asn |