Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500313C= , CM000663.2:g.45500313C= | GRCh38 |
| NC_000001.10:g.45965985C= , CM000663.1:g.45965985C= | GRCh37 |
| NC_000001.9:g.45738572C= | NCBI36 |
| NG_013378.1:g.5130C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.-20C= MANE Select | ENSP00000383840.4:n.-20C= | |
| ENST00000401061.8:c.-20C= | ENSP00000383840.4:n.-20C= | |
| NM_015506.2:c.-20C= | NP_056321.2:n.-20C= | |
| NM_001330540.1:c.-242C= | NP_001317469.1:n.-242C= | |
| XM_005270724.5:c.-20C= | XP_005270781.1:n.-20C= | |
| NM_015506.3:c.-20C= MANE Select | NP_056321.2:n.-20C= | |
| NM_001330540.2:c.-242C= | NP_001317469.1:n.-242C= |