Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293100C= , CM000663.2:g.168293100C= | GRCh38 |
| NC_000001.10:g.168262338C= , CM000663.1:g.168262338C= | GRCh37 |
| NC_000001.9:g.166528962C= | NCBI36 |
| NG_008244.1:g.17061C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.469-44C= MANE Select | ENSP00000356795.3:n.469-44C= | |
| ENST00000367821.7:c.469-44C= | ENSP00000356795.3:n.469-44C= | |
| ENST00000431969.5:c.266-44C= | ||
| NM_005149.2:c.469-44C= | NP_005140.1:n.469-44C= | |
| NM_005149.3:c.469-44C= MANE Select | NP_005140.1:n.469-44C= |