Linked Data
dbSNP Id:
rs892771485
gnomAD v2:
7-81355470-T-C
gnomAD v3:
7-81726154-T-C
gnomAD v4:
7-81726154-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81726154T>C , CM000669.2:g.81726154T>C | GRCh38 |
| NC_000007.13:g.81355470T>C , CM000669.1:g.81355470T>C | GRCh37 |
| NC_000007.12:g.81193406T>C | NCBI36 |
| NG_016274.1:g.48983A>G | |
| NG_016274.2:g.48983A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222390.11:c.1041-137A>G MANE Select | ENSP00000222390.5:n.1041-137A>G | |
| ENST00000457544.7:c.1026-137A>G | ENSP00000391238.2:n.1026-137A>G | |
| ENST00000222390.9:c.1041-137A>G | ENSP00000222390.5:n.1041-137A>G | |
| ENST00000457544.6:c.1026-137A>G | ENSP00000391238.2:n.1026-137A>G | |
| NM_000601.4:c.1041-137A>G | NP_000592.3:n.1041-137A>G | |
| NM_001010932.1:c.1026-137A>G | NP_001010932.1:n.1026-137A>G | |
| XM_006715956.2:c.1041-137A>G | XP_006716019.1:n.1041-137A>G | |
| XM_011516115.1:c.1026-137A>G | XP_011514417.1:n.1026-137A>G | |
| NM_000601.5:c.1041-137A>G | NP_000592.3:n.1041-137A>G | |
| NM_001010932.2:c.1026-137A>G | NP_001010932.1:n.1026-137A>G | |
| XM_011516115.2:c.1026-137A>G | XP_011514417.1:n.1026-137A>G | |
| NM_000601.6:c.1041-137A>G MANE Select | NP_000592.3:n.1041-137A>G | |
| NM_001010932.3:c.1026-137A>G | NP_001010932.1:n.1026-137A>G |