Linked Data
dbSNP Id:
rs150344432
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227009C>A , CM000664.2:g.29227009C>A | GRCh38 |
| NC_000002.11:g.29449875C>A , CM000664.1:g.29449875C>A | GRCh37 |
| NC_000002.10:g.29303379C>A | NCBI36 |
| NG_009445.1:g.699558G>T , LRG_488:g.699558G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2980G>T MANE Select | ENSP00000373700.3:p.Glu994Ter | |
| ENST00000431873.6:c.146G>T | ||
| ENST00000389048.7:c.2980G>T | ENSP00000373700.3:p.Glu994Ter | |
| ENST00000618119.4:c.1849G>T | ENSP00000482733.1:p.Glu617Ter | |
| NM_004304.4:c.2980G>T | NP_004295.2:p.Glu994Ter | |
| XM_024452778.1:c.133G>T | XP_024308546.1:p.Glu45Ter | |
| XR_001738688.2:n.3836G>T | ||
| NM_004304.5:c.2980G>T MANE Select | NP_004295.2:p.Glu994Ter |