Linked Data
PubMed:
PMID:23359570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.[66346080G>A;66346129T>C] , CM000673.2:g.[66346080G>A;66346129T>C] | GRCh38 |
| NC_000011.9:g.[66113551G>A;66113600T>C] , CM000673.1:g.[66113551G>A;66113600T>C] | GRCh37 |
| NC_000011.8:g.[65870127G>A;65870176T>C] | NCBI36 |
| NG_033202.1:g.[6562A>G;6611C>T] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311181.5:c.[1168A>G;1217C>T] MANE Select | ENSP00000309096.4:p.[Asn390Asp;Ala406Val] | |
| ENST00000311181.4:c.[1168A>G;1217C>T] | ENSP00000309096.4:p.[Asn390Asp;Ala406Val] | |
| NM_006876.2:c.[1168A>G;1217C>T] | NP_006867.1:p.[Asn390Asp;Ala406Val] | |
| NM_006876.3:c.[1168A>G;1217C>T] MANE Select | NP_006867.1:p.[Asn390Asp;Ala406Val] |