Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800022C>A , CM000666.2:g.24800022C>A | GRCh38 |
| NC_000004.11:g.24801644C>A , CM000666.1:g.24801644C>A | GRCh37 |
| NC_000004.10:g.24410742C>A | NCBI36 |
| NG_012213.1:g.9560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.501C>A MANE Select | ENSP00000371554.3:p.Leu167= | |
| ENST00000382120.3:c.501C>A | ENSP00000371554.3:p.Leu167= | |
| NM_003102.2:c.501C>A | NP_003093.2:p.Leu167= | |
| XR_427488.1:n.691C>A | ||
| NM_003102.3:c.501C>A | NP_003093.2:p.Leu167= | |
| NM_003102.4:c.501C>A MANE Select | NP_003093.2:p.Leu167= |