Linked Data
dbSNP Id:
rs766573037
ExAC:
12:7945644 G / A
gnomAD v2:
12-7945644-G-A
gnomAD v3:
12-7793048-G-A
gnomAD v4:
12-7793048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793048G>A , CM000674.2:g.7793048G>A | GRCh38 |
| NC_000012.11:g.7945644G>A , CM000674.1:g.7945644G>A | GRCh37 |
| NC_000012.10:g.7836911G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.250G>A MANE Select | ENSP00000229307.4:p.Val84Ile | |
| ENST00000229307.8:c.250G>A | ENSP00000229307.4:p.Val84Ile | |
| ENST00000526286.1:c.250G>A | ENSP00000435288.1:p.Val84Ile | |
| ENST00000526434.2:n.394G>A | ||
| ENST00000541267.5:c.178G>A | ENSP00000444434.1:p.Val60Ile | |
| NM_001297698.1:c.250G>A | NP_001284627.1:p.Val84Ile | |
| NM_024865.3:c.250G>A | NP_079141.2:p.Val84Ile | |
| XM_011520850.1:c.250G>A | XP_011519152.1:p.Val84Ile | |
| XM_011520851.1:c.178G>A | XP_011519153.1:p.Val60Ile | |
| XM_011520852.1:c.-123G>A | XP_011519154.1:n.-123G>A | |
| NM_024865.4:c.250G>A MANE Select | NP_079141.2:p.Val84Ile | |
| NM_001297698.2:c.250G>A | NP_001284627.1:p.Val84Ile |