gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108290440G>T , CM000675.2:g.108290440G>T | GRCh38 |
| NC_000013.10:g.108942788G>T , CM000675.1:g.108942788G>T | GRCh37 |
| NC_000013.9:g.107740789G>T | NCBI36 |
| NG_029524.1:g.25812G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375887.9:c.481+3581G>T MANE Select | ENSP00000365048.3:n.481+3581G>T | |
| ENST00000375887.8:c.481+3581G>T | ENSP00000365048.3:n.481+3581G>T | |
| ENST00000430559.5:c.425-12813G>T | ENSP00000389540.1:n.425-12813G>T | |
| ENST00000479435.1:n.255+3581G>T | ||
| ENST00000542136.1:c.481+3581G>T | ENSP00000445334.1:n.481+3581G>T | |
| NM_001145645.2:c.425-12813G>T | NP_001139117.1:n.425-12813G>T | |
| NM_006573.4:c.481+3581G>T | NP_006564.1:n.481+3581G>T | |
| XM_005254029.3:c.481+3581G>T | XP_005254086.1:n.481+3581G>T | |
| XR_429277.2:n.782+1506C>A | ||
| XR_001749468.1:n.2137+3581G>T | ||
| NM_006573.5:c.481+3581G>T MANE Select | NP_006564.1:n.481+3581G>T |