Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102532650C= , CM000664.2:g.102532650C= | GRCh38 |
| NC_000002.11:g.103149109C= , CM000664.1:g.103149109C= | GRCh37 |
| NC_000002.10:g.102515541C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295269.5:c.2359C= MANE Select | ENSP00000295269.4:p.His787= | |
| ENST00000295269.4:c.2359C= | ENSP00000295269.4:p.His787= | |
| NM_001011552.3:c.2359C= | NP_001011552.2:p.His787= | |
| XM_011511158.1:c.2272C= | XP_011509460.1:p.His758= | |
| NM_001011552.4:c.2359C= MANE Select | NP_001011552.2:p.His787= |