Linked Data
dbSNP Id:
rs2148178719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227066C>A , CM000664.2:g.29227066C>A | GRCh38 |
| NC_000002.11:g.29449932C>A , CM000664.1:g.29449932C>A | GRCh37 |
| NC_000002.10:g.29303436C>A | NCBI36 |
| NG_009445.1:g.699501G>T , LRG_488:g.699501G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2923G>T MANE Select | ENSP00000373700.3:p.Gly975Cys | |
| ENST00000431873.6:c.89G>T | ||
| ENST00000389048.7:c.2923G>T | ENSP00000373700.3:p.Gly975Cys | |
| ENST00000618119.4:c.1792G>T | ENSP00000482733.1:p.Gly598Cys | |
| NM_004304.4:c.2923G>T | NP_004295.2:p.Gly975Cys | |
| XM_024452778.1:c.76G>T | XP_024308546.1:p.Gly26Cys | |
| XR_001738688.2:n.3779G>T | ||
| NM_004304.5:c.2923G>T MANE Select | NP_004295.2:p.Gly975Cys |