Linked Data
ClinVar Variation Id:
2888198
ClinVar RCV Id:
RCV003602922
dbSNP Id:
rs764096552
ExAC:
7:83021863 C / A
gnomAD v2:
7-83021863-C-A
gnomAD v4:
7-83392547-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83392547C>A , CM000669.2:g.83392547C>A | GRCh38 |
| NC_000007.13:g.83021863C>A , CM000669.1:g.83021863C>A | GRCh37 |
| NC_000007.12:g.82859799C>A | NCBI36 |
| NG_021242.1:g.261617G>T | |
| NG_021242.2:g.261617G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427262.6:c.1487+8G>T | ENSP00000405052.1:n.1487+8G>T | |
| ENST00000642232.1:c.1667+8G>T | ENSP00000494064.1:n.1667+8G>T | |
| ENST00000643230.2:c.1667+8G>T MANE Select | ENSP00000496491.1:n.1667+8G>T | |
| ENST00000643441.1:n.1652+8G>T | ||
| ENST00000307792.7:c.1667+8G>T | ENSP00000303212.3:n.1667+8G>T | |
| ENST00000427262.5:c.1487+8G>T | ENSP00000405052.1:n.1487+8G>T | |
| NM_001178129.1:c.1487+8G>T | NP_001171600.1:n.1487+8G>T | |
| NM_012431.2:c.1667+8G>T | NP_036563.1:n.1667+8G>T | |
| XM_011516715.1:c.1667+8G>T | XP_011515017.1:n.1667+8G>T | |
| NM_012431.3:c.1667+8G>T MANE Select | NP_036563.1:n.1667+8G>T | |
| NM_001178129.2:c.1487+8G>T | NP_001171600.1:n.1487+8G>T |