Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014023T>C , CM000663.2:g.1014023T>C | GRCh38 |
| NC_000001.10:g.949403T>C , CM000663.1:g.949403T>C | GRCh37 |
| NC_000001.9:g.939266T>C | NCBI36 |
| NG_033033.1:g.5557T>C | |
| NG_033033.2:g.17886T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624697.4:c.19T>C | ENSP00000485643.1:p.Phe7Leu | |
| ENST00000649529.1:c.43T>C MANE Select | ENSP00000496832.1:p.Phe15Leu | |
| ENST00000379389.4:c.43T>C | ENSP00000368699.4:p.Phe15Leu | |
| ENST00000624652.1:c.19T>C | ENSP00000485313.1:p.Phe7Leu | |
| ENST00000624697.3:c.19T>C | ENSP00000485643.1:p.Phe7Leu | |
| NM_005101.3:c.43T>C | NP_005092.1:p.Phe15Leu | |
| NM_005101.4:c.43T>C MANE Select | NP_005092.1:p.Phe15Leu |