Linked Data
ClinVar Variation Id:
419166
dbSNP Id:
rs764458789
ExAC:
19:1223150 A / G
gnomAD v2:
19-1223150-A-G
gnomAD v4:
19-1223151-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223151A>G , CM000681.2:g.1223151A>G | GRCh38 |
| NC_000019.9:g.1223150A>G , CM000681.1:g.1223150A>G | GRCh37 |
| NC_000019.8:g.1174150A>G | NCBI36 |
| NG_007460.2:g.38745A>G , LRG_319:g.38745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1087A>G | ENSP00000490268.2:p.Thr363Ala | |
| ENST00000585748.3:c.715A>G | ENSP00000477641.2:p.Thr239Ala | |
| ENST00000585851.2:c.913A>G | ENSP00000467912.2:p.Thr305Ala | |
| ENST00000326873.12:c.1087A>G MANE Select | ENSP00000324856.6:p.Thr363Ala | |
| ENST00000652231.1:c.1087A>G | ENSP00000498804.1:p.Thr363Ala | |
| ENST00000326873.11:c.1087A>G | ENSP00000324856.6:p.Thr363Ala | |
| ENST00000585465.2:n.4A>G | ||
| ENST00000586243.5:c.1087A>G | ENSP00000467240.2:p.Thr363Ala | |
| ENST00000589152.5:n.1785A>G | ||
| NM_000455.4:c.1087A>G , LRG_319t1:c.1087A>G | NP_000446.1:p.Thr363Ala | |
| XM_005259617.1:c.1087A>G | XP_005259674.1:p.Thr363Ala | |
| XM_005259618.3:c.1087A>G | XP_005259675.1:p.Thr363Ala | |
| XM_011528209.1:c.865A>G | XP_011526511.1:p.Thr289Ala | |
| XR_936204.1:n.1863A>G | ||
| XM_005259617.3:c.1087A>G | XP_005259674.1:p.Thr363Ala | |
| XM_011528209.2:c.865A>G | XP_011526511.1:p.Thr289Ala | |
| XR_001753738.2:n.1893A>G | ||
| XR_001753739.1:n.1893A>G | ||
| XR_001753740.2:n.1863A>G | ||
| NM_000455.5:c.1087A>G MANE Select | NP_000446.1:p.Thr363Ala |