Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.92590245C>G , CM000666.2:g.92590245C>G | GRCh38 |
| NC_000004.11:g.93511396C>G , CM000666.1:g.93511396C>G | GRCh37 |
| NC_000004.10:g.93730419C>G | NCBI36 |
| NG_034113.1:g.290847C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001510.4:c.203C>G MANE Select | NP_001501.2:p.Thr68Arg |
| ENST00000282020.9:c.203C>G MANE Select | ENSP00000282020.4:p.Thr68Arg |
| NM_001286838.1:c.203C>G | NP_001273767.1:p.Thr68Arg |
| NM_001510.3:c.203C>G | NP_001501.2:p.Thr68Arg |
| ENST00000282020.8:c.203C>G | ENSP00000282020.4:p.Thr68Arg |
| ENST00000505687.5:n.375C>G | |
| ENST00000510992.5:c.203C>G | ENSP00000421257.1:p.Thr68Arg |
| XM_017008122.2:c.203C>G | XP_016863611.1:p.Thr68Arg |
| XM_024454024.1:c.203C>G | XP_024309792.1:p.Thr68Arg |