Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154156374T>G , CM000685.2:g.154156374T>G | GRCh38 |
| NC_000023.10:g.153421849T>G , CM000685.1:g.153421849T>G | GRCh37 |
| NC_000023.9:g.153075043T>G | NCBI36 |
| NG_009105.2:g.17124T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020061.6:c.825T>G MANE Select | NP_064445.2:p.Phe275Leu |
| ENST00000369951.9:c.825T>G MANE Select | ENSP00000358967.4:p.Phe275Leu |
| NM_020061.5:c.825T>G | NP_064445.2:p.Phe275Leu |
| ENST00000369951.8:c.825T>G | ENSP00000358967.4:p.Phe275Leu |
| ENST00000442922.1:c.384+30T>G | ENSP00000402493.1:n.384+30T>G |
| ENST00000463296.1:n.669T>G |