Linked Data
dbSNP Id:
rs750262961
ExAC:
7:94953830 G / A
gnomAD v2:
7-94953830-G-A
gnomAD v3:
7-95324518-G-A
gnomAD v4:
7-95324518-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324518G>A , CM000669.2:g.95324518G>A | GRCh38 |
| NC_000007.13:g.94953830G>A , CM000669.1:g.94953830G>A | GRCh37 |
| NC_000007.12:g.94791766G>A | NCBI36 |
| NG_008779.1:g.5055C>T | |
| NG_008779.2:g.5189C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.-43C>T MANE Select | ENSP00000222381.3:n.-43C>T | |
| ENST00000222381.7:c.-43C>T | ENSP00000222381.3:n.-43C>T | |
| NM_000446.5:c.-43C>T | NP_000437.3:n.-43C>T | |
| NM_000446.6:c.-43C>T | NP_000437.3:n.-43C>T | |
| NM_000446.7:c.-43C>T MANE Select | NP_000437.3:n.-43C>T |