Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103624206T>A , CM000663.2:g.103624206T>A | GRCh38 |
| NC_000001.10:g.104166828T>A , CM000663.1:g.104166828T>A | GRCh37 |
| NC_000001.9:g.103968351T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414303.7:c.1331T>A MANE Select | ENSP00000397582.2:p.Phe444Tyr | |
| ENST00000414303.6:c.1331T>A | ENSP00000397582.2:p.Phe444Tyr | |
| ENST00000497748.1:n.468T>A | ||
| ENST00000622339.4:c.1331T>A | ENSP00000481450.1:p.Phe444Tyr | |
| NM_000699.3:c.1331T>A | NP_000690.1:p.Phe444Tyr | |
| NM_000699.4:c.1331T>A MANE Select | NP_000690.1:p.Phe444Tyr |