Linked Data
ClinVar Variation Id:
785039
dbSNP Id:
rs9837637
ExAC:
3:38051949 C / T
gnomAD v2:
3-38051949-C-T
gnomAD v3:
3-38010458-C-T
gnomAD v4:
3-38010458-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38010458C>T , CM000665.2:g.38010458C>T | GRCh38 |
| NC_000003.11:g.38051949C>T , CM000665.1:g.38051949C>T | GRCh37 |
| NC_000003.10:g.38026953C>T | NCBI36 |
| NG_031922.1:g.24206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334661.5:c.895G>A MANE Select | ENSP00000335600.4:p.Gly299Ser | |
| ENST00000334661.4:c.895G>A | ENSP00000335600.4:p.Gly299Ser | |
| ENST00000461445.5:n.915G>A | ||
| ENST00000463876.5:c.958G>A | ENSP00000430344.1:p.Gly320Ser | |
| NM_001130964.1:c.958G>A | NP_001124436.1:p.Gly320Ser | |
| NM_006225.3:c.895G>A | NP_006216.2:p.Gly299Ser | |
| NR_024071.1:n.1312G>A | ||
| XM_017006622.1:c.721G>A | XP_016862111.1:p.Gly241Ser | |
| XR_001740173.2:n.1101G>A | ||
| NM_001130964.2:c.958G>A | NP_001124436.1:p.Gly320Ser | |
| NM_006225.4:c.895G>A MANE Select | NP_006216.2:p.Gly299Ser | |
| NR_024071.2:n.1045G>A |