Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94010821C>T;94077833C>T] , CM000663.2:g.[94010821C>T;94077833C>T] | GRCh38 |
| NC_000001.10:g.[94476377C>T;94543389C>T] , CM000663.1:g.[94476377C>T;94543389C>T] | GRCh37 |
| NC_000001.9:g.[94248965C>T;94315977C>T] | NCBI36 |
| NG_009073.1:g.[48317G>A;115329G>A] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.[1411G>A;5693G>A] MANE Select | NP_000341.2:p.[Glu471Lys;Arg1898His] |
| ENST00000370225.4:c.[1411G>A;5693G>A] MANE Select | ENSP00000359245.3:p.[Glu471Lys;Arg1898His] |
| NM_000350.2:c.[1411G>A;5693G>A] | NP_000341.2:p.[Glu471Lys;Arg1898His] |
| ENST00000370225.3:c.[1411G>A;5693G>A] | ENSP00000359245.3:p.[Glu471Lys;Arg1898His] |