Linked Data
dbSNP Id:
rs1224141
gnomAD v2:
13-108935723-T-G
gnomAD v3:
13-108283375-T-G
gnomAD v4:
13-108283375-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108283375T>G , CM000675.2:g.108283375T>G | GRCh38 |
| NC_000013.10:g.108935723T>G , CM000675.1:g.108935723T>G | GRCh37 |
| NC_000013.9:g.107733724T>G | NCBI36 |
| NG_029524.1:g.18747T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375887.9:c.425-3428T>G MANE Select | ENSP00000365048.3:n.425-3428T>G | |
| ENST00000375887.8:c.425-3428T>G | ENSP00000365048.3:n.425-3428T>G | |
| ENST00000430559.5:c.424+12951T>G | ENSP00000389540.1:n.424+12951T>G | |
| ENST00000479435.1:n.199-3428T>G | ||
| ENST00000542136.1:c.425-3428T>G | ENSP00000445334.1:n.425-3428T>G | |
| NM_001145645.2:c.424+12951T>G | NP_001139117.1:n.424+12951T>G | |
| NM_006573.4:c.425-3428T>G | NP_006564.1:n.425-3428T>G | |
| XM_005254029.3:c.425-3428T>G | XP_005254086.1:n.425-3428T>G | |
| XR_429277.2:n.787-4005A>C | ||
| XR_001749468.1:n.2081-3428T>G | ||
| NM_006573.5:c.425-3428T>G MANE Select | NP_006564.1:n.425-3428T>G |