Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226970A>C , CM000664.2:g.29226970A>C | GRCh38 |
| NC_000002.11:g.29449836A>C , CM000664.1:g.29449836A>C | GRCh37 |
| NC_000002.10:g.29303340A>C | NCBI36 |
| NG_009445.1:g.699597T>G , LRG_488:g.699597T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3019T>G MANE Select | ENSP00000373700.3:p.Phe1007Val | |
| ENST00000431873.6:c.185T>G | ||
| ENST00000389048.7:c.3019T>G | ENSP00000373700.3:p.Phe1007Val | |
| ENST00000618119.4:c.1888T>G | ENSP00000482733.1:p.Phe630Val | |
| NM_004304.4:c.3019T>G | NP_004295.2:p.Phe1007Val | |
| XM_024452778.1:c.172T>G | XP_024308546.1:p.Phe58Val | |
| XR_001738688.2:n.3875T>G | ||
| NM_004304.5:c.3019T>G MANE Select | NP_004295.2:p.Phe1007Val |