Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.[94043413G>A;94063250A>G] , CM000663.2:g.[94043413G>A;94063250A>G] | GRCh38 |
| NC_000001.10:g.[94508969G>A;94528806A>G] , CM000663.1:g.[94508969G>A;94528806A>G] | GRCh37 |
| NC_000001.9:g.[94281557G>A;94301394A>G] | NCBI36 |
| NG_009073.1:g.[62900T>C;82737C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.[1622T>C;3113C>T] MANE Select | ENSP00000359245.3:p.[Leu541Pro;Ala1038Val] | |
| ENST00000370225.3:c.[1622T>C;3113C>T] | ENSP00000359245.3:p.[Leu541Pro;Ala1038Val] | |
| NM_000350.2:c.[1622T>C;3113C>T] | NP_000341.2:p.[Leu541Pro;Ala1038Val] | |
| NM_000350.3:c.[1622T>C;3113C>T] MANE Select | NP_000341.2:p.[Leu541Pro;Ala1038Val] |