Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447379T>C , CM000663.2:g.62447379T>C | GRCh38 |
| NC_000001.10:g.62913050T>C , CM000663.1:g.62913050T>C | GRCh37 |
| NC_000001.9:g.62685638T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1288T>C MANE Select | ENSP00000343526.4:p.Phe430Leu | |
| ENST00000339950.4:c.1288T>C | ENSP00000343526.4:p.Phe430Leu | |
| ENST00000371146.5:c.1288T>C | ENSP00000360188.1:p.Phe430Leu | |
| NM_001017415.1:c.1288T>C | NP_001017415.1:p.Phe430Leu | |
| NM_001017416.1:c.1288T>C | NP_001017416.1:p.Phe430Leu | |
| NM_003368.4:c.1288T>C | NP_003359.3:p.Phe430Leu | |
| NM_003368.5:c.1288T>C MANE Select | NP_003359.3:p.Phe430Leu | |
| NM_001017415.2:c.1288T>C | NP_001017415.1:p.Phe430Leu | |
| NM_001017416.2:c.1288T>C | NP_001017416.1:p.Phe430Leu |