Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55110522G= , CM000666.2:g.55110522G= | GRCh38 |
| NC_000004.11:g.55976689G= , CM000666.1:g.55976689G= | GRCh37 |
| NC_000004.10:g.55671446G= | NCBI36 |
| NG_012004.1:g.20074C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.1136C= MANE Select | ENSP00000263923.4:p.Ala379= | |
| ENST00000647068.1:n.1149C= | ||
| ENST00000263923.4:c.1136C= | ENSP00000263923.4:p.Ala379= | |
| ENST00000512566.1:n.1136C= | ||
| NM_002253.2:c.1136C= | NP_002244.1:p.Ala379= | |
| NM_002253.3:c.1136C= | NP_002244.1:p.Ala379= | |
| NM_002253.4:c.1136C= MANE Select | NP_002244.1:p.Ala379= |