gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003232 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27788840A>T , CM000670.2:g.27788840A>T | GRCh38 |
| NC_000008.10:g.27646357A>T , CM000670.1:g.27646357A>T | GRCh37 |
| NC_000008.9:g.27702276A>T | NCBI36 |
| NG_008117.1:g.19300A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.1132-7A>T MANE Select | ENSP00000306999.8:n.1132-7A>T | |
| ENST00000305188.12:c.1132-7A>T | ENSP00000306999.8:n.1132-7A>T | |
| ENST00000397418.4:c.76-7A>T | ENSP00000380563.2:n.76-7A>T | |
| ENST00000518262.5:c.246-7A>T | ||
| ENST00000522378.5:c.*107-7A>T | ENSP00000428928.1:n.*107-7A>T | |
| NM_001017420.2:c.1132-7A>T | NP_001017420.1:n.1132-7A>T | |
| XM_011544421.1:c.1132-7A>T | XP_011542723.1:n.1132-7A>T | |
| XM_011544422.1:c.1132-7A>T | XP_011542724.1:n.1132-7A>T | |
| XR_949378.1:n.1216-7A>T | ||
| XR_949379.1:n.1216-7A>T | ||
| XM_011544421.2:c.1132-7A>T | XP_011542723.1:n.1132-7A>T | |
| XM_011544422.2:c.1132-7A>T | XP_011542724.1:n.1132-7A>T | |
| XR_949378.3:n.1216-7A>T | ||
| NM_001017420.3:c.1132-7A>T MANE Select | NP_001017420.1:n.1132-7A>T |