Linked Data
ClinVar Variation Id:
380453
dbSNP Id:
rs148619511
ExAC:
3:148714104 A / G
gnomAD v2:
3-148714104-A-G
gnomAD v3:
3-148996317-A-G
gnomAD v4:
3-148996317-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148996317A>G , CM000665.2:g.148996317A>G | GRCh38 |
| NC_000003.11:g.148714104A>G , CM000665.1:g.148714104A>G | GRCh37 |
| NC_000003.10:g.150196794A>G | NCBI36 |
| NG_027677.1:g.9910A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345003.9:c.159A>G MANE Select | ENSP00000340736.4:p.Thr53= | |
| ENST00000296048.10:c.159A>G | ENSP00000296048.6:p.Thr53= | |
| ENST00000345003.8:c.159A>G | ENSP00000340736.4:p.Thr53= | |
| ENST00000461191.1:c.159A>G | ENSP00000420247.1:p.Thr53= | |
| ENST00000465547.1:n.52A>G | ||
| ENST00000473005.1:c.21A>G | ENSP00000417671.1:p.Thr7= | |
| ENST00000478067.1:n.260A>G | ||
| ENST00000483267.5:c.159A>G | ENSP00000419499.1:p.Thr53= | |
| ENST00000484197.5:c.159A>G | ENSP00000420683.1:p.Thr53= | |
| ENST00000492285.6:c.21A>G | ENSP00000418297.2:p.Thr7= | |
| ENST00000627418.2:c.159A>G | ENSP00000486061.1:p.Thr53= | |
| NM_001184720.1:c.159A>G | NP_001171649.1:p.Thr53= | |
| NM_001184721.1:c.159A>G | NP_001171650.1:p.Thr53= | |
| NM_004130.3:c.159A>G | NP_004121.2:p.Thr53= | |
| XM_017006275.1:c.-19A>G | XP_016861764.1:n.-19A>G | |
| NM_004130.4:c.159A>G MANE Select | NP_004121.2:p.Thr53= | |
| NM_001184720.2:c.159A>G | NP_001171649.1:p.Thr53= | |
| NM_001184721.2:c.159A>G | NP_001171650.1:p.Thr53= |