Linked Data
ClinVar Variation Id:
349314
dbSNP Id:
rs148264146
ExAC:
4:629746 G / A
gnomAD v2:
4-629746-G-A
gnomAD v3:
4-635957-G-A
gnomAD v4:
4-635957-G-A
COSMIC:
COSM1618980
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.635957G>A , CM000666.2:g.635957G>A | GRCh38 |
| NC_000004.11:g.629746G>A , CM000666.1:g.629746G>A | GRCh37 |
| NC_000004.10:g.619746G>A | NCBI36 |
| NG_009839.1:g.15384G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.699G>A MANE Select | ENSP00000420295.1:p.Thr233= | |
| ENST00000255622.10:c.699G>A | ENSP00000255622.6:p.Thr233= | |
| ENST00000496514.5:c.699G>A | ENSP00000420295.1:p.Thr233= | |
| NM_000283.3:c.699G>A | NP_000274.2:p.Thr233= | |
| NM_001145291.1:c.699G>A | NP_001138763.1:p.Thr233= | |
| XM_011513473.1:c.918G>A | XP_011511775.1:p.Thr306= | |
| XM_011513474.1:c.918G>A | XP_011511776.1:p.Thr306= | |
| XM_011513475.1:c.699G>A | XP_011511777.1:p.Thr233= | |
| XM_011513476.1:c.918G>A | XP_011511778.1:p.Thr306= | |
| XM_011513473.3:c.918G>A | XP_011511775.1:p.Thr306= | |
| XM_011513474.3:c.918G>A | XP_011511776.1:p.Thr306= | |
| XM_011513475.2:c.699G>A | XP_011511777.1:p.Thr233= | |
| XM_011513476.3:c.918G>A | XP_011511778.1:p.Thr306= | |
| NM_000283.4:c.699G>A MANE Select | NP_000274.3:p.Thr233= | |
| NM_001145291.2:c.699G>A | NP_001138763.2:p.Thr233= |