Linked Data
dbSNP Id:
rs1404871416
gnomAD v2:
9-136132819-C-T
gnomAD v3:
9-133257432-C-T
gnomAD v4:
9-133257432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257432C>T , CM000671.2:g.133257432C>T | GRCh38 |
| NC_000009.11:g.136132819C>T , CM000671.1:g.136132819C>T | GRCh37 |
| NC_000009.10:g.135122640C>T | NCBI36 |
| NG_006669.1:g.20236G>A | |
| NG_006669.2:g.22784G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.380G>A | ||
| ENST00000647353.1:n.54-6280G>A | ||
| ENST00000651471.1:n.329+610G>A | ||
| ENST00000679909.1:c.28+17730G>A | ENSP00000506089.1:n.28+17730G>A | |
| ENST00000453660.3:n.362G>A | ||
| ENST00000538324.2:c.348G>A | ENSP00000483018.1:p.Gly116= | |
| ENST00000611156.4:c.348G>A | ENSP00000483265.1:p.Gly116= | |
| NM_020469.2:c.351G>A | NP_065202.2:p.Gly117= | |
| NM_020469.3:c.351G>A | NP_065202.2:p.Gly117= |