Linked Data
dbSNP Id:
rs891579072
gnomAD v2:
6-31370324-G-T
gnomAD v3:
6-31402547-G-T
gnomAD v4:
6-31402547-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31402547G>T , CM000668.2:g.31402547G>T | GRCh38 |
| NC_000006.11:g.31370324G>T , CM000668.1:g.31370324G>T | GRCh37 |
| NC_000006.10:g.31478303G>T | NCBI36 |
| NG_034139.1:g.7764G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000667609.1:n.455G>T | ||
| ENST00000673647.1:c.-189+191G>T | ENSP00000500967.1:n.-189+191G>T | |
| ENST00000673996.1:n.79+1764G>T | ||
| ENST00000674069.1:c.-173+1784G>T | ENSP00000501157.1:n.-173+1784G>T | |
| ENST00000674131.1:c.-189+191G>T | ENSP00000501002.1:n.-189+191G>T | |
| ENST00000616296.4:c.-222+1764G>T | ENSP00000482382.1:n.-222+1764G>T | |
| NM_001289152.1:c.-222+1764G>T | NP_001276081.1:n.-222+1764G>T | |
| NM_001289153.1:c.-222+1784G>T | NP_001276082.1:n.-222+1784G>T | |
| NM_001289154.1:c.-173+1784G>T | NP_001276083.1:n.-173+1784G>T | |
| NM_001289152.2:c.-222+1764G>T | NP_001276081.1:n.-222+1764G>T | |
| NM_001289153.2:c.-222+1784G>T | NP_001276082.1:n.-222+1784G>T | |
| NM_001289154.2:c.-173+1784G>T | NP_001276083.1:n.-173+1784G>T |