Linked Data
ClinVar Variation Id:
342738
ClinVar RCV Id:
RCV000376240
dbSNP Id:
rs368805723
ExAC:
3:120352006 G / A
gnomAD v2:
3-120352006-G-A
gnomAD v3:
3-120633159-G-A
gnomAD v4:
3-120633159-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633159G>A , CM000665.2:g.120633159G>A | GRCh38 |
| NC_000003.11:g.120352006G>A , CM000665.1:g.120352006G>A | GRCh37 |
| NC_000003.10:g.121834696G>A | NCBI36 |
| NG_011957.1:g.54323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1176C>T MANE Select | ENSP00000283871.5:p.Ala392= | |
| ENST00000283871.9:c.1176C>T | ENSP00000283871.5:p.Ala392= | |
| ENST00000470321.1:n.516C>T | ||
| ENST00000492108.5:c.455C>T | ENSP00000419838.1:n.455C>T | |
| NM_000187.3:c.1176C>T | NP_000178.2:p.Ala392= | |
| XM_005247412.1:c.951C>T | XP_005247469.1:p.Ala317= | |
| XM_005247412.2:c.951C>T | XP_005247469.1:p.Ala317= | |
| XM_017006277.2:c.753C>T | XP_016861766.1:p.Ala251= | |
| NM_000187.4:c.1176C>T MANE Select | NP_000178.2:p.Ala392= |