Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21636005C= , CM000669.2:g.21636005C= | GRCh38 |
| NC_000007.13:g.21675623C= , CM000669.1:g.21675623C= | GRCh37 |
| NC_000007.12:g.21642148C= | NCBI36 |
| NG_012886.2:g.97791C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4635C= MANE Select | ENSP00000475939.1:p.His1545= | |
| ENST00000328843.10:c.4650C= | ENSP00000330671.7:p.His1550= | |
| ENST00000409508.7:c.4635C= | ENSP00000475939.1:p.His1545= | |
| ENST00000465593.1:n.661C= | ||
| ENST00000620169.4:c.4650C= | ENSP00000481693.1:p.His1550= | |
| NM_001277115.1:c.4635C= | NP_001264044.1:p.His1545= | |
| NM_001277115.2:c.4635C= MANE Select | NP_001264044.1:p.His1545= |