Linked Data
PubMed:
PMID:28118664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94001992C>G;94014622G>T] , CM000663.2:g.[94001992C>G;94014622G>T] | GRCh38 |
| NC_000001.10:g.[94467548C>G;94480178G>T] , CM000663.1:g.[94467548C>G;94480178G>T] | GRCh37 |
| NC_000001.9:g.[94240136C>G;94252766G>T] | NCBI36 |
| NG_009073.1:g.[111528C>A;124158G>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.[5381C>A;6148G>C] MANE Select | ENSP00000359245.3:p.[Ala1794Asp;Val2050Leu] | |
| ENST00000370225.3:c.[5381C>A;6148G>C] | ENSP00000359245.3:p.[Ala1794Asp;Val2050Leu] | |
| ENST00000536513.5:c.[1757C>A;2524G>C] | ENSP00000439707.2:p.[Ala586Asp;Val842Leu] | |
| NM_000350.2:c.[5381C>A;6148G>C] | NP_000341.2:p.[Ala1794Asp;Val2050Leu] | |
| NM_000350.3:c.[5381C>A;6148G>C] MANE Select | NP_000341.2:p.[Ala1794Asp;Val2050Leu] |