Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81280620G>C , CM000670.2:g.81280620G>C | GRCh38 |
| NC_000008.10:g.82192855G>C , CM000670.1:g.82192855G>C | GRCh37 |
| NC_000008.9:g.82355410G>C | NCBI36 |
| NG_028154.1:g.5138G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297258.11:c.25G>C MANE Select | ENSP00000297258.6:p.Gly9Arg | |
| ENST00000297258.10:c.25G>C | ENSP00000297258.6:p.Gly9Arg | |
| NM_001444.2:c.25G>C | NP_001435.1:p.Gly9Arg | |
| NM_001444.3:c.25G>C MANE Select | NP_001435.1:p.Gly9Arg |