Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317692C= , CM000663.2:g.201317692C= | GRCh38 |
| NC_000001.10:g.201286820C= , CM000663.1:g.201286820C= | GRCh37 |
| NC_000001.9:g.199553443C= | NCBI36 |
| NG_023337.1:g.39241C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.967C= MANE Select | ENSP00000356293.4:p.Leu323= | |
| ENST00000263946.7:c.967C= | ENSP00000263946.3:p.Leu323= | |
| ENST00000352845.3:c.967C= | ENSP00000295597.3:p.Leu323= | |
| ENST00000367324.7:c.967C= | ENSP00000356293.3:p.Leu323= | |
| ENST00000475988.1:n.309C= | ||
| ENST00000622031.4:c.964C= | ENSP00000482213.1:p.Leu322= | |
| NM_000299.3:c.967C= | NP_000290.2:p.Leu323= | |
| NM_001005337.2:c.967C= | NP_001005337.1:p.Leu323= | |
| NM_001005337.3:c.967C= MANE Select | NP_001005337.1:p.Leu323= | |
| NM_000299.4:c.967C= | NP_000290.2:p.Leu323= |