Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29694992G>C , CM000664.2:g.29694992G>C | GRCh38 |
| NC_000002.11:g.29917858G>C , CM000664.1:g.29917858G>C | GRCh37 |
| NC_000002.10:g.29771362G>C | NCBI36 |
| NG_009445.1:g.231575C>G , LRG_488:g.231575C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.810C>G MANE Select | NP_004295.2:p.Phe270Leu |
| ENST00000389048.8:c.810C>G MANE Select | ENSP00000373700.3:p.Phe270Leu |
| NM_004304.4:c.810C>G | NP_004295.2:p.Phe270Leu |
| ENST00000389048.7:c.810C>G | ENSP00000373700.3:p.Phe270Leu |
| ENST00000618119.4:c.-322C>G | ENSP00000482733.1:n.-322C>G |
| XR_001738688.2:n.1740C>G |