Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76137021C>G , CM000679.2:g.76137021C>G | GRCh38 |
| NC_000017.10:g.74133102C>G , CM000679.1:g.74133102C>G | GRCh37 |
| NC_000017.9:g.71644697C>G | NCBI36 |
| NG_013345.1:g.9279G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001454.4:c.*332G>C MANE Select | NP_001445.2:n.*332G>C |
| ENST00000322957.7:c.*332G>C MANE Select | ENSP00000323880.4:n.*332G>C |
| NM_001454.3:c.*332G>C | NP_001445.2:n.*332G>C |
| ENST00000322957.6:c.*332G>C | ENSP00000323880.4:n.*332G>C |