gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34576473T>A , CM000682.2:g.34576473T>A | GRCh38 |
| NC_000020.10:g.33164277T>A , CM000682.1:g.33164277T>A | GRCh37 |
| NC_000020.9:g.32627938T>A | NCBI36 |
| NG_011497.1:g.105813A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217446.8:c.1052-1227A>T MANE Select | ENSP00000217446.3:n.1052-1227A>T | |
| ENST00000217446.7:c.1052-1227A>T | ENSP00000217446.3:n.1052-1227A>T | |
| ENST00000374820.6:c.992-1227A>T | ENSP00000363953.2:n.992-1227A>T | |
| ENST00000438215.1:c.290-1227A>T | ENSP00000395755.1:n.290-1227A>T | |
| NM_080476.4:c.1052-1227A>T | NP_536724.1:n.1052-1227A>T | |
| XM_011528542.1:c.404-1227A>T | XP_011526844.1:n.404-1227A>T | |
| XM_011528542.2:c.404-1227A>T | XP_011526844.1:n.404-1227A>T | |
| XM_017027664.1:c.908-1227A>T | XP_016883153.1:n.908-1227A>T | |
| XR_001754162.1:n.1104-1227A>T | ||
| XR_001754163.1:n.960-1227A>T | ||
| NM_080476.5:c.1052-1227A>T MANE Select | NP_536724.1:n.1052-1227A>T |