Linked Data
dbSNP Id:
rs748850354
ExAC:
7:99358574 A / T
gnomAD v2:
7-99358574-A-T
gnomAD v3:
7-99760951-A-T
gnomAD v4:
7-99760951-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99760951A>T , CM000669.2:g.99760951A>T | GRCh38 |
| NC_000007.13:g.99358574A>T , CM000669.1:g.99358574A>T | GRCh37 |
| NC_000007.12:g.99196510A>T | NCBI36 |
| NG_008421.1:g.28235T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.1377T>A | ENSP00000337915.3:p.Asp459Glu | |
| ENST00000651162.1:n.719T>A | ||
| ENST00000651514.1:c.1284T>A MANE Select | ENSP00000498939.1:p.Asp428Glu | |
| ENST00000651783.1:c.825T>A | ENSP00000498924.1:p.Asp275Glu | |
| ENST00000652018.1:c.1137T>A | ENSP00000498733.1:p.Asp379Glu | |
| ENST00000336411.6:c.1284T>A | ENSP00000337915.2:p.Asp428Glu | |
| ENST00000354593.6:c.834T>A | ENSP00000346607.2:p.Asp278Glu | |
| NM_001202855.2:c.1281T>A | NP_001189784.1:p.Asp427Glu | |
| NM_017460.5:c.1284T>A | NP_059488.2:p.Asp428Glu | |
| XM_011515841.1:c.1377T>A | XP_011514143.1:p.Asp459Glu | |
| XM_011515842.1:c.1374T>A | XP_011514144.1:p.Asp458Glu | |
| NM_017460.6:c.1284T>A MANE Select | NP_059488.2:p.Asp428Glu | |
| NM_001202855.3:c.1281T>A | NP_001189784.1:p.Asp427Glu |