Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227073C>A , CM000664.2:g.29227073C>A | GRCh38 |
| NC_000002.11:g.29449939C>A , CM000664.1:g.29449939C>A | GRCh37 |
| NC_000002.10:g.29303443C>A | NCBI36 |
| NG_009445.1:g.699494G>T , LRG_488:g.699494G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2916G>T MANE Select | ENSP00000373700.3:p.Val972= | |
| ENST00000431873.6:c.82G>T | ||
| ENST00000389048.7:c.2916G>T | ENSP00000373700.3:p.Val972= | |
| ENST00000618119.4:c.1785G>T | ENSP00000482733.1:p.Val595= | |
| NM_004304.4:c.2916G>T | NP_004295.2:p.Val972= | |
| XM_024452778.1:c.69G>T | XP_024308546.1:p.Val23= | |
| XR_001738688.2:n.3772G>T | ||
| NM_004304.5:c.2916G>T MANE Select | NP_004295.2:p.Val972= |