Linked Data
dbSNP Id:
rs36223347
gnomAD v2:
6-31370654-A-T
gnomAD v3:
6-31402877-A-T
gnomAD v4:
6-31402877-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31402877A>T , CM000668.2:g.31402877A>T | GRCh38 |
| NC_000006.11:g.31370654A>T , CM000668.1:g.31370654A>T | GRCh37 |
| NC_000006.10:g.31478633A>T | NCBI36 |
| NG_034139.1:g.8094A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000667609.1:n.785A>T | ||
| ENST00000673647.1:c.-189+521A>T | ENSP00000500967.1:n.-189+521A>T | |
| ENST00000673996.1:n.79+2094A>T | ||
| ENST00000674069.1:c.-173+2114A>T | ENSP00000501157.1:n.-173+2114A>T | |
| ENST00000674131.1:c.-189+521A>T | ENSP00000501002.1:n.-189+521A>T | |
| ENST00000616296.4:c.-222+2094A>T | ENSP00000482382.1:n.-222+2094A>T | |
| NM_001289152.1:c.-222+2094A>T | NP_001276081.1:n.-222+2094A>T | |
| NM_001289153.1:c.-222+2114A>T | NP_001276082.1:n.-222+2114A>T | |
| NM_001289154.1:c.-173+2114A>T | NP_001276083.1:n.-173+2114A>T | |
| NM_001289152.2:c.-222+2094A>T | NP_001276081.1:n.-222+2094A>T | |
| NM_001289153.2:c.-222+2114A>T | NP_001276082.1:n.-222+2114A>T | |
| NM_001289154.2:c.-173+2114A>T | NP_001276083.1:n.-173+2114A>T |