Linked Data
dbSNP Id:
rs773929094
gnomAD v2:
8-18250912-G-A
gnomAD v3:
8-18393402-G-A
gnomAD v4:
8-18393402-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18393402G>A , CM000670.2:g.18393402G>A | GRCh38 |
| NC_000008.10:g.18250912G>A , CM000670.1:g.18250912G>A | GRCh37 |
| NC_000008.9:g.18295192G>A | NCBI36 |
| NG_012246.1:g.7158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.-7+2057G>A MANE Select | ENSP00000286479.3:n.-7+2057G>A | |
| ENST00000286479.3:c.-7+2057G>A | ENSP00000286479.3:n.-7+2057G>A | |
| ENST00000520116.1:c.-58+2057G>A | ENSP00000428416.1:n.-58+2057G>A | |
| NM_000015.2:c.-7+2057G>A | NP_000006.2:n.-7+2057G>A | |
| XM_011544358.1:c.-7+666G>A | XP_011542660.1:n.-7+666G>A | |
| XM_017012938.1:c.-7+6366G>A | XP_016868427.1:n.-7+6366G>A | |
| NM_000015.3:c.-7+2057G>A MANE Select | NP_000006.2:n.-7+2057G>A |