Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29694927C>A , CM000664.2:g.29694927C>A | GRCh38 |
| NC_000002.11:g.29917793C>A , CM000664.1:g.29917793C>A | GRCh37 |
| NC_000002.10:g.29771297C>A | NCBI36 |
| NG_009445.1:g.231640G>T , LRG_488:g.231640G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.875G>T MANE Select | NP_004295.2:p.Arg292Leu |
| ENST00000389048.8:c.875G>T MANE Select | ENSP00000373700.3:p.Arg292Leu |
| NM_004304.4:c.875G>T | NP_004295.2:p.Arg292Leu |
| ENST00000389048.7:c.875G>T | ENSP00000373700.3:p.Arg292Leu |
| ENST00000618119.4:c.-257G>T | ENSP00000482733.1:n.-257G>T |
| XR_001738688.2:n.1805G>T |