Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774631T>C , CM000678.2:g.74774631T>C | GRCh38 |
| NC_000016.9:g.74808529T>C , CM000678.1:g.74808529T>C | GRCh37 |
| NC_000016.8:g.73366030T>C | NCBI36 |
| NG_017070.1:g.5201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.125A>G MANE Select | ENSP00000219368.3:p.His42Arg | |
| ENST00000219368.7:c.125A>G | ENSP00000219368.3:p.His42Arg | |
| ENST00000567683.5:c.125A>G | ENSP00000455126.1:p.His42Arg | |
| NM_024306.4:c.125A>G | NP_077282.3:p.His42Arg | |
| XM_011523317.1:c.125A>G | XP_011521619.1:p.His42Arg | |
| XM_011523318.1:c.125A>G | XP_011521620.1:p.His42Arg | |
| XM_011523317.3:c.125A>G | XP_011521619.1:p.His42Arg | |
| NM_024306.5:c.125A>G MANE Select | NP_077282.3:p.His42Arg |