Linked Data
ClinVar Variation Id:
2960955
ClinVar RCV Id:
RCV003819666
dbSNP Id:
rs1554320729
ExAC:
7:83036557 T / C
gnomAD v2:
7-83036557-T-C
gnomAD v4:
7-83407241-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83407241T>C , CM000669.2:g.83407241T>C | GRCh38 |
| NC_000007.13:g.83036557T>C , CM000669.1:g.83036557T>C | GRCh37 |
| NC_000007.12:g.82874493T>C | NCBI36 |
| NG_021242.1:g.246923A>G | |
| NG_021242.2:g.246923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.491-2A>G | ENSP00000405052.1:n.491-2A>G | |
| ENST00000642232.1:c.671-2A>G | ENSP00000494064.1:n.671-2A>G | |
| ENST00000643230.2:c.671-2A>G MANE Select | ENSP00000496491.1:n.671-2A>G | |
| ENST00000643441.1:n.656-2A>G | ||
| ENST00000644381.1:n.234-2A>G | ||
| ENST00000307792.7:c.671-2A>G | ENSP00000303212.3:n.671-2A>G | |
| ENST00000427262.5:c.491-2A>G | ENSP00000405052.1:n.491-2A>G | |
| NM_001178129.1:c.491-2A>G | NP_001171600.1:n.491-2A>G | |
| NM_012431.2:c.671-2A>G | NP_036563.1:n.671-2A>G | |
| XM_011516715.1:c.671-2A>G | XP_011515017.1:n.671-2A>G | |
| NM_012431.3:c.671-2A>G MANE Select | NP_036563.1:n.671-2A>G | |
| NM_001178129.2:c.491-2A>G | NP_001171600.1:n.491-2A>G |