Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822624G>T , CM000667.2:g.151822624G>T | GRCh38 |
| NC_000005.9:g.151202185G>T , CM000667.1:g.151202185G>T | GRCh37 |
| NC_000005.8:g.151182378G>T | NCBI36 |
| NG_011764.1:g.107213C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.*49C>A MANE Select | ENSP00000274576.5:n.*49C>A | |
| ENST00000274576.8:c.*49C>A | ENSP00000274576.4:n.*49C>A | |
| NM_000171.3:c.*49C>A | NP_000162.2:n.*49C>A | |
| NM_001146040.1:c.*49C>A | NP_001139512.1:n.*49C>A | |
| NM_001292000.1:c.*49C>A | NP_001278929.1:n.*49C>A | |
| NM_000171.4:c.*49C>A MANE Select | NP_000162.2:n.*49C>A | |
| NM_001146040.2:c.*49C>A | NP_001139512.1:n.*49C>A | |
| NM_001292000.2:c.*49C>A | NP_001278929.1:n.*49C>A |