Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189596G>T , CM000675.2:g.20189596G>T | GRCh38 |
| NC_000013.10:g.20763735G>T , CM000675.1:g.20763735G>T | GRCh37 |
| NC_000013.9:g.19661735G>T | NCBI36 |
| NG_008358.1:g.8380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.-15C>A | ENSP00000372295.1:n.-15C>A | |
| ENST00000382848.5:c.-15C>A MANE Select | ENSP00000372299.4:n.-15C>A | |
| ENST00000382844.1:c.-15C>A | ENSP00000372295.1:n.-15C>A | |
| ENST00000382848.4:c.-15C>A | ENSP00000372299.4:n.-15C>A | |
| NM_004004.5:c.-15C>A | NP_003995.2:n.-15C>A | |
| XM_011535049.1:c.-15C>A | XP_011533351.1:n.-15C>A | |
| XM_011535049.2:c.-15C>A | XP_011533351.1:n.-15C>A | |
| NM_004004.6:c.-15C>A MANE Select | NP_003995.2:n.-15C>A |