Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67939972G>C , CM000678.2:g.67939972G>C | GRCh38 |
| NC_000016.9:g.67973875G>C , CM000678.1:g.67973875G>C | GRCh37 |
| NC_000016.8:g.66531376G>C | NCBI36 |
| NG_009778.1:g.9141C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1255C>G MANE Select | ENSP00000264005.5:p.Leu419Val | |
| ENST00000264005.9:c.1255C>G | ENSP00000264005.5:p.Leu419Val | |
| ENST00000570369.5:c.258C>G | ||
| ENST00000573538.5:c.993C>G | ENSP00000463220.1:n.993C>G | |
| NM_000229.1:c.1255C>G | NP_000220.1:p.Leu419Val | |
| NM_000229.2:c.1255C>G MANE Select | NP_000220.1:p.Leu419Val |