Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48443676C>A , CM000681.2:g.48443676C>A | GRCh38 |
| NC_000019.9:g.48946933C>A , CM000681.1:g.48946933C>A | GRCh37 |
| NC_000019.8:g.53638745C>A | NCBI36 |
| NG_046925.1:g.2904C>A | |
| NG_052829.1:g.53802C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000836.4:c.3750C>A MANE Select | NP_000827.2:p.His1250Gln |
| ENST00000263269.4:c.3750C>A MANE Select | ENSP00000263269.2:p.His1250Gln |
| NM_000836.2:c.3750C>A | NP_000827.2:p.His1250Gln |
| ENST00000263269.3:c.3750C>A | ENSP00000263269.2:p.His1250Gln |
| XM_011526872.1:c.3750C>A | XP_011525174.1:p.His1250Gln |