gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108728378A>T , CM000675.2:g.108728378A>T | GRCh38 |
| NC_000013.10:g.109380726A>T , CM000675.1:g.109380726A>T | GRCh37 |
| NC_000013.9:g.108178727A>T | NCBI36 |
| NG_053147.1:g.237650A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251041.10:c.441+795A>T | ENSP00000251041.5:n.441+795A>T | |
| ENST00000356711.7:c.441+795A>T | ENSP00000349145.2:n.441+795A>T | |
| ENST00000457511.7:c.507+795A>T MANE Select | ENSP00000401633.3:n.507+795A>T | |
| ENST00000251041.9:c.441+795A>T | ENSP00000251041.5:n.441+795A>T | |
| ENST00000356711.6:c.441+795A>T | ENSP00000349145.2:n.441+795A>T | |
| ENST00000357550.3:c.441+795A>T | ENSP00000350160.2:n.441+795A>T | |
| ENST00000457511.6:c.507+795A>T | ENSP00000401633.3:n.507+795A>T | |
| NM_001198950.1:c.507+795A>T | NP_001185879.1:n.507+795A>T | |
| NM_015011.1:c.441+795A>T | NP_055826.1:n.441+795A>T | |
| XM_011521062.1:c.441+795A>T | XP_011519364.1:n.441+795A>T | |
| NM_001198950.2:c.507+795A>T | NP_001185879.1:n.507+795A>T | |
| NM_015011.2:c.441+795A>T | NP_055826.1:n.441+795A>T | |
| NM_001198950.3:c.507+795A>T MANE Select | NP_001185879.1:n.507+795A>T | |
| NM_015011.3:c.441+795A>T | NP_055826.1:n.441+795A>T |