Linked Data
ClinVar Variation Id:
388880
dbSNP Id:
rs147719815
ExAC:
11:67379697 G / A
gnomAD v4:
11-67612226-G-A
COSMIC:
COSM931141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67612226G>A , CM000673.2:g.67612226G>A | GRCh38 |
| NC_000011.9:g.67379697G>A , CM000673.1:g.67379697G>A | GRCh37 |
| NC_000011.8:g.67136273G>A | NCBI36 |
| NG_013353.1:g.10375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1269G>A MANE Select | ENSP00000322450.6:p.Thr423= | |
| ENST00000647561.1:c.1269G>A | ENSP00000497587.1:p.Thr423= | |
| ENST00000322776.10:c.1269G>A | ENSP00000322450.6:p.Thr423= | |
| ENST00000415352.6:c.1248G>A | ENSP00000395368.2:p.Thr416= | |
| ENST00000526770.5:n.1552G>A | ||
| ENST00000527355.5:c.476G>A | ENSP00000432637.1:n.476G>A | |
| ENST00000529927.5:c.1242G>A | ENSP00000436766.1:p.Thr414= | |
| ENST00000531250.1:n.533G>A | ||
| ENST00000532303.5:c.966G>A | ENSP00000432015.1:p.Thr322= | |
| ENST00000533919.5:c.673G>A | ENSP00000435199.1:n.673G>A | |
| ENST00000534352.1:n.508G>A | ||
| NM_001166102.1:c.1242G>A | NP_001159574.1:p.Thr414= | |
| NM_007103.3:c.1269G>A | NP_009034.2:p.Thr423= | |
| NM_001166102.2:c.1242G>A | NP_001159574.1:p.Thr414= | |
| NM_007103.4:c.1269G>A MANE Select | NP_009034.2:p.Thr423= |