Linked Data
PubMed:
PMID:10870883
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[5225675A>G;5226695T>A] , CM000673.2:g.[5225675A>G;5226695T>A] | GRCh38 |
| NC_000011.9:g.[5246905A>G;5247925T>A] , CM000673.1:g.[5246905A>G;5247925T>A] | GRCh37 |
| NC_000011.8:g.[5203481A>G;5204501T>A] | NCBI36 |
| NG_000007.3:g.[70921A>T;71941T>C] | |
| NG_059281.1:g.[5377A>T;6397T>C] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.[197A>T;367T>C] | ENSP00000494175.1:p.[Lys66Met;Phe123Leu] | |
| ENST00000335295.4:c.[197A>T;367T>C] MANE Select | ENSP00000333994.3:p.[Lys66Met;Phe123Leu] | |
| ENST00000475226.1:n.[129A>T;299T>C] | ||
| ENST00000633227.1:c.[*13A>T;*183T>C] | ENSP00000488004.1:n.[*13A>T;*183T>C] | |
| NM_000518.4:c.[197A>T;367T>C] | NP_000509.1:p.[Lys66Met;Phe123Leu] | |
| NM_000518.5:c.[197A>T;367T>C] MANE Select | NP_000509.1:p.[Lys66Met;Phe123Leu] |