Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94001068C>T;94042767G>A] , CM000663.2:g.[94001068C>T;94042767G>A] | GRCh38 |
| NC_000001.10:g.[94466624C>T;94508323G>A] , CM000663.1:g.[94466624C>T;94508323G>A] | GRCh37 |
| NC_000001.9:g.[94239212C>T;94280911G>A] | NCBI36 |
| NG_009073.1:g.[83383C>T;125082G>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.[3322C>T;6320G>A] MANE Select | ENSP00000359245.3:p.[Arg1108Cys;Arg2107His] | |
| ENST00000370225.3:c.[3322C>T;6320G>A] | ENSP00000359245.3:p.[Arg1108Cys;Arg2107His] | |
| ENST00000536513.5:c.[-64-2678C>T;2696G>A] | ENSP00000439707.2:p.Arg899His | |
| NM_000350.2:c.[3322C>T;6320G>A] | NP_000341.2:p.[Arg1108Cys;Arg2107His] | |
| NM_000350.3:c.[3322C>T;6320G>A] MANE Select | NP_000341.2:p.[Arg1108Cys;Arg2107His] |