Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14981448A>G , CM000674.2:g.14981448A>G | GRCh38 |
| NC_000012.11:g.15134382A>G , CM000674.1:g.15134382A>G | GRCh37 |
| NC_000012.10:g.15025649A>G | NCBI36 |
| NG_016859.1:g.13427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.224A>G MANE Select | ENSP00000266395.2:p.His75Arg | |
| ENST00000266395.2:c.224A>G | ENSP00000266395.2:p.His75Arg | |
| NM_006205.2:c.224A>G | NP_006196.1:p.His75Arg | |
| XR_931376.1:n.175+8039T>C | ||
| XM_017019431.2:c.224A>G | XP_016874920.1:p.His75Arg | |
| XR_931376.2:n.389+8039T>C | ||
| NM_006205.3:c.224A>G MANE Select | NP_006196.1:p.His75Arg |