Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94005499C>T;94121045T>C] , CM000663.2:g.[94005499C>T;94121045T>C] | GRCh38 |
| NC_000001.10:g.[94471055C>T;94586601T>C] , CM000663.1:g.[94471055C>T;94586601T>C] | GRCh37 |
| NC_000001.9:g.[94243643C>T;94359189T>C] | NCBI36 |
| NG_009073.1:g.[5105A>G;120651G>A] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.[1A>G;6089G>A] MANE Select | NP_000341.2:p.[Met1Val;Arg2030Gln] |
| ENST00000370225.4:c.[1A>G;6089G>A] MANE Select | ENSP00000359245.3:p.[Met1Val;Arg2030Gln] |
| NM_000350.2:c.[1A>G;6089G>A] | NP_000341.2:p.[Met1Val;Arg2030Gln] |
| ENST00000370225.3:c.[1A>G;6089G>A] | ENSP00000359245.3:p.[Met1Val;Arg2030Gln] |