Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168305136C= , CM000663.2:g.168305136C= | GRCh38 |
| NC_000001.10:g.168274374C= , CM000663.1:g.168274374C= | GRCh37 |
| NC_000001.9:g.166540998C= | NCBI36 |
| NG_008244.1:g.29097C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005149.3:c.856C= MANE Select | NP_005140.1:p.Arg286= |
| ENST00000367821.8:c.856C= MANE Select | ENSP00000356795.3:p.Arg286= |
| NM_005149.2:c.856C= | NP_005140.1:p.Arg286= |
| ENST00000367821.7:c.856C= | ENSP00000356795.3:p.Arg286= |
| ENST00000431969.5:c.525-3606C= | |
| ENST00000441464.1:c.353C= |