Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.70895776G>T , CM000674.2:g.70895776G>T | GRCh38 |
| NC_000012.11:g.71289556G>T , CM000674.1:g.71289556G>T | GRCh37 |
| NC_000012.10:g.69575823G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002849.4:c.59-2799C>A MANE Select | NP_002840.2:n.59-2799C>A |
| ENST00000283228.7:c.59-2799C>A MANE Select | ENSP00000283228.2:n.59-2799C>A |
| NM_002849.3:c.59-2799C>A | NP_002840.2:n.59-2799C>A |
| ENST00000283228.6:c.59-2799C>A | ENSP00000283228.2:n.59-2799C>A |
| XM_011538615.1:c.35-2799C>A | XP_011536917.1:n.35-2799C>A |
| XM_011538615.2:c.35-2799C>A | XP_011536917.1:n.35-2799C>A |
| XM_011538616.1:c.59-2799C>A | XP_011536918.1:n.59-2799C>A |
| XR_001748830.1:n.401-2799C>A | |
| XR_944652.1:n.447-2799C>A |