Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446728T>G , CM000663.2:g.68446728T>G | GRCh38 |
| NC_000001.10:g.68912411T>G , CM000663.1:g.68912411T>G | GRCh37 |
| NC_000001.9:g.68684999T>G | NCBI36 |
| NG_008472.1:g.8232A>C | |
| NG_008472.2:g.8232A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.227A>C MANE Select | NP_000320.1:p.His76Pro |
| ENST00000262340.6:c.227A>C MANE Select | ENSP00000262340.5:p.His76Pro |
| NM_000329.2:c.227A>C | NP_000320.1:p.His76Pro |
| ENST00000262340.5:c.227A>C | ENSP00000262340.5:p.His76Pro |
| XM_017002027.1:c.-31-1845A>C | XP_016857516.1:n.-31-1845A>C |