Linked Data
PubMed:
PMID:15768550
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5225609T>A;5225618G>C] , CM000673.2:g.[5225609T>A;5225618G>C] | GRCh38 |
| NC_000011.9:g.[5246839T>A;5246848G>C] , CM000673.1:g.[5246839T>A;5246848G>C] | GRCh37 |
| NC_000011.8:g.[5203415T>A;5203424G>C] | NCBI36 |
| NG_000007.3:g.[71998C>G;72007A>T] | |
| NG_059281.1:g.[6454C>G;6463A>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.[424C>G;433A>T] | ENSP00000494175.1:p.[Leu142Val;Lys145Ter] | |
| ENST00000335295.4:c.[424C>G;433A>T] MANE Select | ENSP00000333994.3:p.[Leu142Val;Lys145Ter] | |
| ENST00000633227.1:c.[*240C>G;*249A>T] | ENSP00000488004.1:n.[*240C>G;*249A>T] | |
| NM_000518.4:c.[424C>G;433A>T] | NP_000509.1:p.[Leu142Val;Lys145Ter] | |
| NM_000518.5:c.[424C>G;433A>T] MANE Select | NP_000509.1:p.[Leu142Val;Lys145Ter] |