Linked Data
ClinVar Variation Id:
243036
dbSNP Id:
rs756623659
ExAC:
1:957605 G / A
gnomAD v2:
1-957605-G-A
gnomAD v4:
1-1022225-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1022225G>A , CM000663.2:g.1022225G>A | GRCh38 |
| NC_000001.10:g.957605G>A , CM000663.1:g.957605G>A | GRCh37 |
| NC_000001.9:g.947468G>A | NCBI36 |
| NG_016346.1:g.7103G>A , LRG_198:g.7103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.226G>A MANE Select | ENSP00000368678.2:p.Gly76Ser | |
| ENST00000379370.6:c.226G>A | ENSP00000368678.2:p.Gly76Ser | |
| ENST00000620552.4:c.-189G>A | ENSP00000484607.1:n.-189G>A | |
| NM_001305275.1:c.226G>A | NP_001292204.1:p.Gly76Ser | |
| NM_198576.3:c.226G>A | NP_940978.2:p.Gly76Ser | |
| XM_005244749.2:c.226G>A | XP_005244806.1:p.Gly76Ser | |
| XM_006710635.2:c.226G>A | XP_006710698.1:p.Gly76Ser | |
| XM_011541429.1:c.226G>A | XP_011539731.1:p.Gly76Ser | |
| XM_011541430.1:c.226G>A | XP_011539732.1:p.Gly76Ser | |
| XR_946650.1:n.293G>A | ||
| XM_005244749.3:c.226G>A | XP_005244806.1:p.Gly76Ser | |
| XM_011541429.2:c.226G>A | XP_011539731.1:p.Gly76Ser | |
| XR_946650.2:n.297G>A | ||
| NM_001305275.2:c.226G>A | NP_001292204.1:p.Gly76Ser | |
| NM_198576.4:c.226G>A MANE Select | NP_940978.2:p.Gly76Ser |