Linked Data
ClinVar Variation Id:
3167
ClinVar RCV Id:
RCV000003317
dbSNP Id:
rs120074171
ExAC:
3:120357318 C / A
gnomAD v2:
3-120357318-C-A
gnomAD v3:
3-120638471-C-A
gnomAD v4:
3-120638471-C-A
PubMed:
PMID:10594001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638471C>A , CM000665.2:g.120638471C>A | GRCh38 |
| NC_000003.11:g.120357318C>A , CM000665.1:g.120357318C>A | GRCh37 |
| NC_000003.10:g.121840008C>A | NCBI36 |
| NG_011957.1:g.49011G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.990G>T MANE Select | ENSP00000283871.5:p.Arg330Ser | |
| ENST00000283871.9:c.990G>T | ENSP00000283871.5:p.Arg330Ser | |
| ENST00000470321.1:n.330G>T | ||
| ENST00000475447.2:c.307+3118G>T | ||
| ENST00000492108.5:c.285+3118G>T | ENSP00000419838.1:n.285+3118G>T | |
| ENST00000494453.1:c.410G>T | ||
| NM_000187.3:c.990G>T | NP_000178.2:p.Arg330Ser | |
| XM_005247412.1:c.765G>T | XP_005247469.1:p.Arg255Ser | |
| XM_005247413.1:c.990G>T | XP_005247470.1:p.Arg330Ser | |
| XM_011512746.1:c.879+3118G>T | XP_011511048.1:n.879+3118G>T | |
| XM_005247412.2:c.765G>T | XP_005247469.1:p.Arg255Ser | |
| XM_005247413.2:c.990G>T | XP_005247470.1:p.Arg330Ser | |
| XM_011512746.2:c.879+3118G>T | XP_011511048.1:n.879+3118G>T | |
| XM_017006277.2:c.567G>T | XP_016861766.1:p.Arg189Ser | |
| NM_000187.4:c.990G>T MANE Select | NP_000178.2:p.Arg330Ser |