Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151268275C>A , CM000667.2:g.151268275C>A | GRCh38 |
| NC_000005.9:g.150647836C>A , CM000667.1:g.150647836C>A | GRCh37 |
| NC_000005.8:g.150628029C>A | NCBI36 |
| NG_009059.1:g.20224C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000405.5:c.*824C>A MANE Select | NP_000396.2:n.*824C>A |
| ENST00000357164.4:c.*824C>A MANE Select | ENSP00000349687.3:n.*824C>A |
| NM_000405.4:c.*824C>A | NP_000396.2:n.*824C>A |
| NM_001167607.1:c.*635C>A | NP_001161079.1:n.*635C>A |
| NM_001167607.2:c.*635C>A | NP_001161079.1:n.*635C>A |
| NM_001167607.3:c.*635C>A | NP_001161079.1:n.*635C>A |
| ENST00000357164.3:c.*824C>A | ENSP00000349687.3:n.*824C>A |