Linked Data
ClinVar Variation Id:
224802
dbSNP Id:
rs869320623
gnomAD v2:
1-19568918-C-T
gnomAD v3:
1-19242424-C-T
gnomAD v4:
1-19242424-C-T
PubMed:
PMID:23105016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19242424C>T , CM000663.2:g.19242424C>T | GRCh38 |
| NC_000001.10:g.19568918C>T , CM000663.1:g.19568918C>T | GRCh37 |
| NC_000001.9:g.19441505C>T | NCBI36 |
| NG_032948.1:g.14136G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486405.2:c.430G>A | ENSP00000419345.2:p.Ala144Thr | |
| ENST00000488681.2:c.*138G>A | ENSP00000510702.1:n.*138G>A | |
| ENST00000685099.1:c.*194G>A | ENSP00000509737.1:n.*194G>A | |
| ENST00000685594.1:c.430G>A | ENSP00000510232.1:p.Ala144Thr | |
| ENST00000688219.1:c.430G>A | ENSP00000510231.1:p.Ala144Thr | |
| ENST00000688332.1:c.261G>A | ||
| ENST00000688538.1:c.*292G>A | ENSP00000508615.1:n.*292G>A | |
| ENST00000688667.1:c.430G>A | ENSP00000509418.1:p.Ala144Thr | |
| ENST00000689748.1:n.604G>A | ||
| ENST00000690451.1:n.1363G>A | ||
| ENST00000690732.1:c.430G>A | ENSP00000510581.1:p.Ala144Thr | |
| ENST00000690823.1:c.430G>A | ENSP00000509286.1:p.Ala144Thr | |
| ENST00000692207.1:c.*194G>A | ENSP00000509071.1:n.*194G>A | |
| ENST00000477853.6:c.430G>A MANE Select | ENSP00000420608.1:p.Ala144Thr | |
| ENST00000375199.7:c.430G>A | ENSP00000364345.3:p.Ala144Thr | |
| ENST00000375208.7:c.364G>A | ENSP00000364354.3:p.Ala122Thr | |
| ENST00000477853.5:c.430G>A | ENSP00000420608.1:p.Ala144Thr | |
| NM_001271427.1:c.430G>A | NP_001258356.1:p.Ala144Thr | |
| NM_001271428.1:c.430G>A | NP_001258357.1:p.Ala144Thr | |
| NM_001271429.1:c.364G>A | NP_001258358.1:p.Ala122Thr | |
| NM_015047.2:c.430G>A | NP_055862.1:p.Ala144Thr | |
| XM_005245787.1:c.430G>A | XP_005245844.1:p.Ala144Thr | |
| XM_005245788.1:c.430G>A | XP_005245845.1:p.Ala144Thr | |
| XM_005245787.2:c.430G>A | XP_005245844.1:p.Ala144Thr | |
| XM_005245788.2:c.430G>A | XP_005245845.1:p.Ala144Thr | |
| NM_015047.3:c.430G>A MANE Select | NP_055862.1:p.Ala144Thr | |
| NM_001271427.2:c.430G>A | NP_001258356.1:p.Ala144Thr | |
| NM_001271428.2:c.430G>A | NP_001258357.1:p.Ala144Thr | |
| NM_001271429.2:c.364G>A | NP_001258358.1:p.Ala122Thr | |
| NM_001375820.1:c.430G>A | NP_001362749.1:p.Ala144Thr | |
| NM_001375821.1:c.430G>A | NP_001362750.1:p.Ala144Thr |