Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29717583C= , CM000664.2:g.29717583C= | GRCh38 |
| NC_000002.11:g.29940449C= , CM000664.1:g.29940449C= | GRCh37 |
| NC_000002.10:g.29793953C= | NCBI36 |
| NG_009445.1:g.208984G= , LRG_488:g.208984G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.782G= MANE Select | ENSP00000373700.3:p.Arg261= | |
| ENST00000389048.7:c.782G= | ENSP00000373700.3:p.Arg261= | |
| ENST00000618119.4:c.-350G= | ENSP00000482733.1:n.-350G= | |
| NM_004304.4:c.782G= | NP_004295.2:p.Arg261= | |
| XR_001738688.2:n.1712G= | ||
| NM_004304.5:c.782G= MANE Select | NP_004295.2:p.Arg261= |