Linked Data
ClinVar Variation Id:
379915
dbSNP Id:
rs529961953
gnomAD v2:
11-22279284-C-A
gnomAD v4:
11-22257738-C-A
COSMIC:
COSM346300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22257738C>A , CM000673.2:g.22257738C>A | GRCh38 |
| NC_000011.9:g.22279284C>A , CM000673.1:g.22279284C>A | GRCh37 |
| NC_000011.8:g.22235860C>A | NCBI36 |
| NG_015844.1:g.69563C>A , LRG_868:g.69563C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682266.1:c.941C>A | ENSP00000507766.1:p.Ala314Asp | |
| ENST00000682341.1:c.1349C>A | ENSP00000508251.1:p.Ala450Asp | |
| ENST00000683197.1:c.1349C>A | ENSP00000507641.1:p.Ala450Asp | |
| ENST00000683411.1:c.941C>A | ENSP00000508397.1:p.Ala314Asp | |
| ENST00000683437.1:c.941C>A | ENSP00000508408.1:p.Ala314Asp | |
| ENST00000683613.1:n.2385C>A | ||
| ENST00000684663.1:c.1346C>A | ENSP00000508009.1:p.Ala449Asp | |
| ENST00000324559.9:c.1391C>A MANE Select | ENSP00000315371.9:p.Ala464Asp | |
| ENST00000648804.1:n.1726C>A | ||
| ENST00000324559.8:c.1391C>A | ENSP00000315371.8:p.Ala464Asp | |
| NM_001142649.1:c.1388C>A | NP_001136121.1:p.Ala463Asp | |
| NM_213599.2:c.1391C>A , LRG_868t1:c.1391C>A | NP_998764.1:p.Ala464Asp | |
| XM_005252820.2:c.1349C>A | XP_005252877.2:p.Ala450Asp | |
| XM_005252821.2:c.1346C>A | XP_005252878.2:p.Ala449Asp | |
| XM_005252822.3:c.1313C>A | XP_005252879.1:p.Ala438Asp | |
| XM_005252823.3:c.1310C>A | XP_005252880.1:p.Ala437Asp | |
| XM_011519949.1:c.1298C>A | XP_011518251.1:p.Ala433Asp | |
| XM_005252820.3:c.1349C>A | XP_005252877.2:p.Ala450Asp | |
| XM_005252821.3:c.1346C>A | XP_005252878.2:p.Ala449Asp | |
| XM_005252822.4:c.1313C>A | XP_005252879.1:p.Ala438Asp | |
| XM_011519949.2:c.1298C>A | XP_011518251.1:p.Ala433Asp | |
| NM_001142649.2:c.1388C>A | NP_001136121.1:p.Ala463Asp | |
| NM_213599.3:c.1391C>A MANE Select | NP_998764.1:p.Ala464Asp |