Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863000C>G , CM000666.2:g.4863000C>G | GRCh38 |
| NC_000004.11:g.4864727C>G , CM000666.1:g.4864727C>G | GRCh37 |
| NC_000004.10:g.4915628C>G | NCBI36 |
| NG_008121.1:g.8336C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.769C>G MANE Select | ENSP00000372170.4:p.Leu257Val | |
| ENST00000382723.4:c.769C>G | ENSP00000372170.4:p.Leu257Val | |
| ENST00000468421.1:n.481C>G | ||
| NM_002448.3:c.769C>G MANE Select | NP_002439.2:p.Leu257Val |