Linked Data
dbSNP Id:
rs572155326
gnomAD v2:
6-31370274-C-G
gnomAD v3:
6-31402497-C-G
gnomAD v4:
6-31402497-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31402497C>G , CM000668.2:g.31402497C>G | GRCh38 |
| NC_000006.11:g.31370274C>G , CM000668.1:g.31370274C>G | GRCh37 |
| NC_000006.10:g.31478253C>G | NCBI36 |
| NG_034139.1:g.7714C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000667609.1:n.405C>G | ||
| ENST00000673647.1:c.-189+141C>G | ENSP00000500967.1:n.-189+141C>G | |
| ENST00000673996.1:n.79+1714C>G | ||
| ENST00000674069.1:c.-173+1734C>G | ENSP00000501157.1:n.-173+1734C>G | |
| ENST00000674131.1:c.-189+141C>G | ENSP00000501002.1:n.-189+141C>G | |
| ENST00000616296.4:c.-222+1714C>G | ENSP00000482382.1:n.-222+1714C>G | |
| NM_001289152.1:c.-222+1714C>G | NP_001276081.1:n.-222+1714C>G | |
| NM_001289153.1:c.-222+1734C>G | NP_001276082.1:n.-222+1734C>G | |
| NM_001289154.1:c.-173+1734C>G | NP_001276083.1:n.-173+1734C>G | |
| NM_001289152.2:c.-222+1714C>G | NP_001276081.1:n.-222+1714C>G | |
| NM_001289153.2:c.-222+1734C>G | NP_001276082.1:n.-222+1734C>G | |
| NM_001289154.2:c.-173+1734C>G | NP_001276083.1:n.-173+1734C>G |