Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55106779A= , CM000666.2:g.55106779A= | GRCh38 |
| NC_000004.11:g.55972946A= , CM000666.1:g.55972946A= | GRCh37 |
| NC_000004.10:g.55667703A= | NCBI36 |
| NG_012004.1:g.23817T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.1444T= MANE Select | ENSP00000263923.4:p.Cys482= | |
| ENST00000647068.1:n.1457T= | ||
| ENST00000263923.4:c.1444T= | ENSP00000263923.4:p.Cys482= | |
| ENST00000512566.1:n.1444T= | ||
| NM_002253.2:c.1444T= | NP_002244.1:p.Cys482= | |
| NM_002253.3:c.1444T= | NP_002244.1:p.Cys482= | |
| NM_002253.4:c.1444T= MANE Select | NP_002244.1:p.Cys482= |