Linked Data
ClinVar Variation Id:
1359469
ClinVar RCV Id:
RCV002547976
dbSNP Id:
rs201606430
ExAC:
3:49142071 C / A
gnomAD v2:
3-49142071-C-A
gnomAD v3:
3-49104638-C-A
gnomAD v4:
3-49104638-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49104638C>A , CM000665.2:g.49104638C>A | GRCh38 |
| NC_000003.11:g.49142071C>A , CM000665.1:g.49142071C>A | GRCh37 |
| NC_000003.10:g.49117075C>A | NCBI36 |
| NG_042312.1:g.5492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306125.12:c.96G>T MANE Select | ENSP00000307567.6:p.Gln32His | |
| ENST00000306125.11:c.96G>T | ENSP00000307567.6:p.Gln32His | |
| ENST00000414533.5:c.96G>T | ENSP00000390015.1:p.Gln32His | |
| ENST00000417025.2:n.122G>T | ||
| ENST00000418549.3:c.96G>T | ENSP00000415247.1:p.Gln32His | |
| ENST00000430182.5:c.96G>T | ENSP00000389823.1:p.Gln32His | |
| ENST00000452739.5:c.96G>T | ENSP00000392850.2:p.Gln32His | |
| ENST00000470619.6:n.115G>T | ||
| ENST00000479495.5:n.98-167G>T | ||
| ENST00000482261.7:n.172G>T | ||
| ENST00000482438.2:n.122G>T | ||
| ENST00000494767.2:c.96G>T | ENSP00000489170.1:p.Gln32His | |
| ENST00000634359.1:n.198-167G>T | ||
| ENST00000634527.1:c.-318-167G>T | ENSP00000489039.1:n.-318-167G>T | |
| ENST00000634602.1:c.96G>T | ENSP00000489082.1:p.Gln32His | |
| ENST00000634609.1:n.121G>T | ||
| ENST00000634724.1:n.120G>T | ||
| ENST00000634802.1:c.96G>T | ENSP00000488917.1:p.Gln32His | |
| ENST00000634953.1:n.123G>T | ||
| ENST00000635052.1:c.96G>T | ENSP00000489409.1:p.Gln32His | |
| ENST00000635194.1:c.96G>T | ENSP00000488960.1:p.Gln32His | |
| ENST00000635231.1:c.81+15G>T | ENSP00000489550.1:n.81+15G>T | |
| ENST00000635278.1:n.120G>T | ||
| ENST00000635443.1:c.96G>T | ENSP00000489154.1:p.Gln32His | |
| ENST00000635494.1:c.96G>T | ENSP00000489331.1:p.Gln32His | |
| ENST00000635501.1:n.486G>T | ||
| ENST00000635622.1:c.-368G>T | ENSP00000489558.1:n.-368G>T | |
| NM_001272073.1:c.96G>T | NP_001259002.1:p.Gln32His | |
| NM_005051.2:c.96G>T | NP_005042.1:p.Gln32His | |
| NR_073590.1:n.492G>T | ||
| XM_011533973.1:c.150G>T | XP_011532275.1:p.Gln50His | |
| XM_017006965.2:c.96G>T | XP_016862454.2:p.Gln32His | |
| NM_005051.3:c.96G>T MANE Select | NP_005042.1:p.Gln32His | |
| NM_001272073.2:c.96G>T | NP_001259002.1:p.Gln32His | |
| NR_073590.2:n.120G>T |