Linked Data
dbSNP Id:
rs760230159
ExAC:
4:88968008 G / A
gnomAD v2:
4-88968008-G-A
gnomAD v3:
4-88046856-G-A
gnomAD v4:
4-88046856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046856G>A , CM000666.2:g.88046856G>A | GRCh38 |
| NC_000004.11:g.88968008G>A , CM000666.1:g.88968008G>A | GRCh37 |
| NC_000004.10:g.89187032G>A | NCBI36 |
| NG_008604.1:g.44189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1534G>A MANE Select | ENSP00000237596.2:p.Val512Ile | |
| ENST00000237596.6:c.1534G>A | ENSP00000237596.2:p.Val512Ile | |
| ENST00000508588.5:c.-199+3399G>A | ENSP00000427131.1:n.-199+3399G>A | |
| NM_000297.3:c.1534G>A | NP_000288.1:p.Val512Ile | |
| XM_011532028.1:c.1309G>A | XP_011530330.1:p.Val437Ile | |
| XM_011532029.1:c.814G>A | XP_011530331.1:p.Val272Ile | |
| XM_011532030.1:c.694G>A | XP_011530332.1:p.Val232Ile | |
| XR_244632.2:n.1629G>A | ||
| NR_156488.1:n.1621G>A | ||
| XM_011532028.2:c.1309G>A | XP_011530330.1:p.Val437Ile | |
| XM_011532030.2:c.694G>A | XP_011530332.1:p.Val232Ile | |
| NM_000297.4:c.1534G>A MANE Select | NP_000288.1:p.Val512Ile | |
| NR_156488.2:n.1633G>A |