Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227016C= , CM000664.2:g.29227016C= | GRCh38 |
| NC_000002.11:g.29449882C= , CM000664.1:g.29449882C= | GRCh37 |
| NC_000002.10:g.29303386C= | NCBI36 |
| NG_009445.1:g.699551G= , LRG_488:g.699551G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2973G= MANE Select | ENSP00000373700.3:p.Glu991= | |
| ENST00000431873.6:c.139G= | ||
| ENST00000389048.7:c.2973G= | ENSP00000373700.3:p.Glu991= | |
| ENST00000618119.4:c.1842G= | ENSP00000482733.1:p.Glu614= | |
| NM_004304.4:c.2973G= | NP_004295.2:p.Glu991= | |
| XM_024452778.1:c.126G= | XP_024308546.1:p.Glu42= | |
| XR_001738688.2:n.3829G= | ||
| NM_004304.5:c.2973G= MANE Select | NP_004295.2:p.Glu991= |