Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141644T>A , CM000665.2:g.14141644T>A | GRCh38 |
| NC_000003.11:g.14183144T>A , CM000665.1:g.14183144T>A | GRCh37 |
| NC_000003.10:g.14158145T>A | NCBI36 |
| NG_008975.1:g.21705T>A , LRG_435:g.21705T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1082T>A | ENSP00000395617.1:n.*1082T>A | |
| ENST00000306077.5:c.1052T>A MANE Select | ENSP00000303992.5:p.Phe351Tyr | |
| ENST00000306077.4:c.1052T>A | ENSP00000303992.4:p.Phe351Tyr | |
| ENST00000601399.3:n.327+2347T>A | ||
| ENST00000608606.1:c.236+2347T>A | ||
| NM_024334.2:c.1052T>A , LRG_435t1:c.1052T>A | NP_077310.1:p.Phe351Tyr | |
| XM_011534109.1:c.947T>A | XP_011532411.1:p.Phe316Tyr | |
| XM_017007176.2:c.947T>A | XP_016862665.1:p.Phe316Tyr | |
| NM_024334.3:c.1052T>A MANE Select | NP_077310.1:p.Phe351Tyr |