Linked Data
ClinVar Variation Id:
343874
dbSNP Id:
rs76440173
ExAC:
3:155546124 C / T
gnomAD v2:
3-155546124-C-T
gnomAD v3:
3-155828335-C-T
gnomAD v4:
3-155828335-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.155828335C>T , CM000665.2:g.155828335C>T | GRCh38 |
| NC_000003.11:g.155546124C>T , CM000665.1:g.155546124C>T | GRCh37 |
| NC_000003.10:g.157028818C>T | NCBI36 |
| NG_023365.1:g.31125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468581.2:c.*329G>A | ENSP00000418847.2:n.*329G>A | |
| ENST00000642438.1:c.*1062G>A | ENSP00000495971.1:n.*1062G>A | |
| ENST00000643144.2:c.1525G>A MANE Select | ENSP00000496241.1:p.Gly509Ser | |
| ENST00000643876.1:c.*847G>A | ENSP00000495323.1:n.*847G>A | |
| ENST00000644094.1:c.*329G>A | ENSP00000494476.1:n.*329G>A | |
| ENST00000644855.1:c.*736G>A | ENSP00000493564.1:n.*736G>A | |
| ENST00000646424.1:c.1219G>A | ENSP00000494846.1:p.Gly407Ser | |
| ENST00000359479.7:c.1525G>A | ENSP00000352456.3:p.Gly509Ser | |
| ENST00000392845.7:c.1525G>A | ENSP00000376587.2:p.Gly509Ser | |
| ENST00000468581.1:c.657G>A | ||
| ENST00000475842.5:c.683G>A | ||
| ENST00000496772.1:c.433G>A | ENSP00000419165.1:p.Gly145Ser | |
| NM_001190992.1:c.1525G>A | NP_001177921.1:p.Gly509Ser | |
| NM_004733.3:c.1525G>A | NP_004724.1:p.Gly509Ser | |
| XM_011513311.1:c.1222G>A | XP_011511613.1:p.Gly408Ser | |
| NM_001363883.1:c.1219G>A | NP_001350812.1:p.Gly407Ser | |
| XM_011513311.3:c.1222G>A | XP_011511613.1:p.Gly408Ser | |
| XM_017007463.1:c.1015G>A | XP_016862952.1:p.Gly339Ser | |
| XM_017007464.1:c.712G>A | XP_016862953.1:p.Gly238Ser | |
| XR_001740361.2:n.2768G>A | ||
| XR_001740362.2:n.2701G>A | ||
| XR_002959605.1:n.2969G>A | ||
| NM_004733.4:c.1525G>A MANE Select | NP_004724.1:p.Gly509Ser | |
| NM_001190992.2:c.1525G>A | NP_001177921.1:p.Gly509Ser |