Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4912123T>C , CM000674.2:g.4912123T>C | GRCh38 |
| NC_000012.11:g.5021289T>C , CM000674.1:g.5021289T>C | GRCh37 |
| NC_000012.10:g.4891550T>C | NCBI36 |
| NG_011815.1:g.7217T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000217.3:c.745T>C MANE Select | NP_000208.2:p.Phe249Leu |
| ENST00000382545.5:c.745T>C MANE Select | ENSP00000371985.3:p.Phe249Leu |
| NM_000217.2:c.745T>C | NP_000208.2:p.Phe249Leu |
| ENST00000382545.3:c.745T>C | ENSP00000371985.3:p.Phe249Leu |
| ENST00000541095.1:n.105+1651T>C | |
| ENST00000543874.2:n.96+1651T>C | |
| ENST00000543874.3:n.105+1651T>C | |
| ENST00000639306.1:c.583T>C | ENSP00000492506.1:p.Phe195Leu |