Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.[103049423G>A;103051290A>G] , CM000675.2:g.[103049423G>A;103051290A>G] | GRCh38 |
| NC_000013.10:g.[103701773G>A;103703640A>G] , CM000675.1:g.[103701773G>A;103703640A>G] | GRCh37 |
| NC_000013.9:g.[102499774G>A;102501641A>G] | NCBI36 |
| NG_016648.1:g.[20557T>C;22424C>T] |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000452.3:c.[728T>C;785C>T] MANE Select | NP_000443.2:p.[Leu243Pro;Thr262Met] |
| ENST00000245312.5:c.[728T>C;785C>T] MANE Select | ENSP00000245312.3:p.[Leu243Pro;Thr262Met] |
| NM_000452.2:c.[728T>C;785C>T] | NP_000443.1:p.[Leu243Pro;Thr262Met] |
| ENST00000245312.4:c.[728T>C;785C>T] | ENSP00000245312.3:p.[Leu243Pro;Thr262Met] |