Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29694969G>A , CM000664.2:g.29694969G>A | GRCh38 |
| NC_000002.11:g.29917835G>A , CM000664.1:g.29917835G>A | GRCh37 |
| NC_000002.10:g.29771339G>A | NCBI36 |
| NG_009445.1:g.231598C>T , LRG_488:g.231598C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.833C>T MANE Select | NP_004295.2:p.Pro278Leu |
| ENST00000389048.8:c.833C>T MANE Select | ENSP00000373700.3:p.Pro278Leu |
| NM_004304.4:c.833C>T | NP_004295.2:p.Pro278Leu |
| ENST00000389048.7:c.833C>T | ENSP00000373700.3:p.Pro278Leu |
| ENST00000618119.4:c.-299C>T | ENSP00000482733.1:n.-299C>T |
| XR_001738688.2:n.1763C>T |