Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189675G>T , CM000675.2:g.20189675G>T | GRCh38 |
| NC_000013.10:g.20763814G>T , CM000675.1:g.20763814G>T | GRCh37 |
| NC_000013.9:g.19661814G>T | NCBI36 |
| NG_008358.1:g.8301C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.-94C>A | ENSP00000372295.1:n.-94C>A | |
| ENST00000382848.5:c.-22-72C>A MANE Select | ENSP00000372299.4:n.-22-72C>A | |
| ENST00000382844.1:c.-94C>A | ENSP00000372295.1:n.-94C>A | |
| ENST00000382848.4:c.-22-72C>A | ENSP00000372299.4:n.-22-72C>A | |
| NM_004004.5:c.-22-72C>A | NP_003995.2:n.-22-72C>A | |
| XM_011535049.1:c.-22-72C>A | XP_011533351.1:n.-22-72C>A | |
| XM_011535049.2:c.-22-72C>A | XP_011533351.1:n.-22-72C>A | |
| NM_004004.6:c.-22-72C>A MANE Select | NP_003995.2:n.-22-72C>A |