Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94008251C>T;94011334G>C] , CM000663.2:g.[94008251C>T;94011334G>C] | GRCh38 |
| NC_000001.10:g.[94473807C>T;94476890G>C] , CM000663.1:g.[94473807C>T;94476890G>C] | GRCh37 |
| NC_000001.9:g.[94246395C>T;94249478G>C] | NCBI36 |
| NG_009073.1:g.[114816C>G;117899G>A] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.[5512C>G;5882G>A] MANE Select | ENSP00000359245.3:p.[His1838Asp;Gly1961Glu] | |
| ENST00000370225.3:c.[5512C>G;5882G>A] | ENSP00000359245.3:p.[His1838Asp;Gly1961Glu] | |
| ENST00000536513.5:c.[1888C>G;2258G>A] | ENSP00000439707.2:p.[His630Asp;Gly753Glu] | |
| NM_000350.2:c.[5512C>G;5882G>A] | NP_000341.2:p.[His1838Asp;Gly1961Glu] | |
| NM_000350.3:c.[5512C>G;5882G>A] MANE Select | NP_000341.2:p.[His1838Asp;Gly1961Glu] |