Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500288C= , CM000663.2:g.45500288C= | GRCh38 |
| NC_000001.10:g.45965960C= , CM000663.1:g.45965960C= | GRCh37 |
| NC_000001.9:g.45738547C= | NCBI36 |
| NG_013378.1:g.5105C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.8:c.-45C= | ENSP00000383840.4:n.-45C= | |
| NM_015506.2:c.-45C= | NP_056321.2:n.-45C= | |
| NM_001330540.1:c.-267C= | NP_001317469.1:n.-267C= | |
| XM_005270724.5:c.-45C= | XP_005270781.1:n.-45C= |