Linked Data
ClinVar Variation Id:
2630802
ClinVar RCV Id:
RCV003404178
dbSNP Id:
rs755331183
ExAC:
17:6607320 T / C
gnomAD v2:
17-6607320-T-C
gnomAD v4:
17-6704001-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6704001T>C , CM000679.2:g.6704001T>C | GRCh38 |
| NC_000017.10:g.6607320T>C , CM000679.1:g.6607320T>C | GRCh37 |
| NC_000017.9:g.6548044T>C | NCBI36 |
| NG_034220.1:g.14421A>G , LRG_1020:g.14421A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.424A>G MANE Select | ENSP00000406220.2:p.Thr142Ala | |
| ENST00000293800.10:c.373A>G | ENSP00000293800.6:p.Thr125Ala | |
| ENST00000381074.8:c.295A>G | ENSP00000370464.4:p.Thr99Ala | |
| ENST00000433363.6:c.424A>G | ENSP00000406220.2:p.Thr142Ala | |
| ENST00000572094.1:c.*174A>G | ENSP00000461495.1:n.*174A>G | |
| ENST00000572352.5:c.313A>G | ENSP00000461622.1:p.Thr105Ala | |
| ENST00000573648.5:c.424A>G | ENSP00000459372.1:p.Thr142Ala | |
| ENST00000574824.5:n.1557A>G | ||
| ENST00000576323.1:n.454A>G | ||
| NM_001143838.2:c.424A>G | NP_001137310.1:p.Thr142Ala | |
| NM_001284509.1:c.373A>G | NP_001271438.1:p.Thr125Ala | |
| NM_001284510.1:c.295A>G | NP_001271439.1:p.Thr99Ala | |
| NM_177550.4:c.424A>G , LRG_1020t1:c.424A>G | NP_808218.1:p.Thr142Ala | |
| XM_006721504.2:c.313A>G | XP_006721567.1:p.Thr105Ala | |
| XM_011523795.1:c.424A>G | XP_011522097.1:p.Thr142Ala | |
| XM_011523795.3:c.424A>G | XP_011522097.1:p.Thr142Ala | |
| NM_001143838.3:c.424A>G | NP_001137310.1:p.Thr142Ala | |
| NM_001284509.2:c.373A>G | NP_001271438.1:p.Thr125Ala | |
| NM_001284510.2:c.295A>G | NP_001271439.1:p.Thr99Ala | |
| NM_177550.5:c.424A>G MANE Select | NP_808218.1:p.Thr142Ala |