Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863156C>G , CM000666.2:g.4863156C>G | GRCh38 |
| NC_000004.11:g.4864883C>G , CM000666.1:g.4864883C>G | GRCh37 |
| NC_000004.10:g.4915784C>G | NCBI36 |
| NG_008121.1:g.8492C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.*13C>G MANE Select | ENSP00000372170.4:n.*13C>G | |
| ENST00000382723.4:c.*13C>G | ENSP00000372170.4:n.*13C>G | |
| NM_002448.3:c.*13C>G MANE Select | NP_002439.2:n.*13C>G |