Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818752A>G , CM000671.2:g.129818752A>G | GRCh38 |
| NC_000009.11:g.132581031A>G , CM000671.1:g.132581031A>G | GRCh37 |
| NC_000009.10:g.131620852A>G | NCBI36 |
| NG_008049.1:g.10411T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.613T>C MANE Select | NP_000104.1:p.Phe205Leu |
| ENST00000351698.5:c.613T>C MANE Select | ENSP00000345719.4:p.Phe205Leu |
| NM_000113.2:c.613T>C | NP_000104.1:p.Phe205Leu |
| ENST00000351698.4:c.613T>C | ENSP00000345719.4:p.Phe205Leu |
| ENST00000473604.2:n.723T>C | |
| ENST00000474192.1:n.30T>C | |
| ENST00000651202.1:c.709T>C | ENSP00000498222.1:p.Phe237Leu |
| XR_929731.1:n.773T>C | |
| XR_929731.3:n.641T>C |