Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345729G= , CM000665.2:g.50345729G= | GRCh38 |
| NC_000003.11:g.50383160G= , CM000665.1:g.50383160G= | GRCh37 |
| NC_000003.10:g.50358164G= | NCBI36 |
| NG_023270.1:g.208C= | |
| NG_042828.1:g.5018C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.-150C= MANE Select | ENSP00000231749.3:n.-150C= | |
| ENST00000231749.7:c.-150C= | ENSP00000231749.3:n.-150C= | |
| ENST00000360165.7:c.-150C= | ENSP00000353289.3:n.-150C= | |
| NM_001308379.1:c.-150C= | NP_001295308.1:n.-150C= | |
| NM_015896.3:c.-150C= | NP_056980.2:n.-150C= | |
| XM_005265216.2:c.-278C= | XP_005265273.1:n.-278C= | |
| NM_015896.4:c.-150C= MANE Select | NP_056980.2:n.-150C= | |
| NM_001308379.2:c.-150C= | NP_001295308.1:n.-150C= |