Linked Data
dbSNP Id:
rs57409622
ExAC:
7:99367428 G / A
gnomAD v2:
7-99367428-G-A
gnomAD v3:
7-99769805-G-A
gnomAD v4:
7-99769805-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.99769805G>A , CM000669.2:g.99769805G>A | GRCh38 |
| NC_000007.13:g.99367428G>A , CM000669.1:g.99367428G>A | GRCh37 |
| NC_000007.12:g.99205364G>A | NCBI36 |
| NG_008421.1:g.19381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336411.7:c.484C>T | ENSP00000337915.3:p.Arg162Trp | |
| ENST00000651514.1:c.484C>T MANE Select | ENSP00000498939.1:p.Arg162Trp | |
| ENST00000651783.1:c.58-1298C>T | ENSP00000498924.1:n.58-1298C>T | |
| ENST00000652018.1:c.337C>T | ENSP00000498733.1:p.Arg113Trp | |
| ENST00000336411.6:c.484C>T | ENSP00000337915.2:p.Arg162Trp | |
| ENST00000354593.6:c.72-1303C>T | ENSP00000346607.2:n.72-1303C>T | |
| ENST00000480043.1:n.381C>T | ||
| NM_001202855.2:c.484C>T | NP_001189784.1:p.Arg162Trp | |
| NM_017460.5:c.484C>T | NP_059488.2:p.Arg162Trp | |
| XM_011515841.1:c.484C>T | XP_011514143.1:p.Arg162Trp | |
| XM_011515842.1:c.484C>T | XP_011514144.1:p.Arg162Trp | |
| NM_017460.6:c.484C>T MANE Select | NP_059488.2:p.Arg162Trp | |
| NM_001202855.3:c.484C>T | NP_001189784.1:p.Arg162Trp |