Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141645T>C , CM000665.2:g.14141645T>C | GRCh38 |
| NC_000003.11:g.14183145T>C , CM000665.1:g.14183145T>C | GRCh37 |
| NC_000003.10:g.14158146T>C | NCBI36 |
| NG_008975.1:g.21706T>C , LRG_435:g.21706T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.1053T>C MANE Select | NP_077310.1:p.Phe351= |
| ENST00000306077.5:c.1053T>C MANE Select | ENSP00000303992.5:p.Phe351= |
| NM_024334.2:c.1053T>C , LRG_435t1:c.1053T>C | NP_077310.1:p.Phe351= |
| ENST00000306077.4:c.1053T>C | ENSP00000303992.4:p.Phe351= |
| ENST00000432444.2:c.*1083T>C | ENSP00000395617.1:n.*1083T>C |
| ENST00000601399.3:n.327+2348T>C | |
| ENST00000608606.1:c.236+2348T>C | |
| XM_011534109.1:c.948T>C | XP_011532411.1:p.Phe316= |
| XM_017007176.2:c.948T>C | XP_016862665.1:p.Phe316= |