Linked Data
ClinVar Variation Id:
309734
dbSNP Id:
rs886049650
gnomAD v2:
12-53708108-G-C
gnomAD v3:
12-53314324-G-C
gnomAD v4:
12-53314324-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53314324G>C , CM000674.2:g.53314324G>C | GRCh38 |
| NC_000012.11:g.53708108G>C , CM000674.1:g.53708108G>C | GRCh37 |
| NC_000012.10:g.51994375G>C | NCBI36 |
| NG_016775.1:g.12305C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.663C>G MANE Select | ENSP00000209873.4:p.Thr221= | |
| ENST00000546393.7:n.1508C>G | ||
| ENST00000546562.6:n.1727C>G | ||
| ENST00000547238.6:n.1299C>G | ||
| ENST00000547520.6:n.657C>G | ||
| ENST00000547757.2:c.-289C>G | ENSP00000448020.2:n.-289C>G | |
| ENST00000548880.2:n.1113C>G | ||
| ENST00000548931.6:c.183C>G | ENSP00000457518.1:p.Thr61= | |
| ENST00000549450.6:n.597C>G | ||
| ENST00000552161.6:n.1619C>G | ||
| ENST00000672797.1:n.1116C>G | ||
| ENST00000672900.1:n.1461C>G | ||
| ENST00000209873.8:c.663C>G | ENSP00000209873.4:p.Thr221= | |
| ENST00000394384.7:c.564C>G | ENSP00000377908.3:p.Thr188= | |
| ENST00000546393.6:n.560C>G | ||
| ENST00000547238.5:n.1056C>G | ||
| ENST00000547520.5:n.367C>G | ||
| ENST00000547757.1:c.564C>G | ENSP00000448020.1:p.Thr188= | |
| ENST00000547761.6:n.555C>G | ||
| ENST00000548931.5:c.183C>G | ENSP00000457518.1:p.Thr61= | |
| ENST00000549983.5:n.686C>G | ||
| ENST00000550286.5:c.291C>G | ENSP00000446885.1:p.Thr97= | |
| ENST00000552876.5:n.1006C>G | ||
| NM_001173466.1:c.564C>G | NP_001166937.1:p.Thr188= | |
| NM_015665.5:c.663C>G | NP_056480.1:p.Thr221= | |
| XM_006719617.2:c.678C>G | XP_006719680.1:p.Thr226= | |
| XM_006719619.2:c.678C>G | XP_006719682.1:p.Thr226= | |
| XM_011538777.1:c.678C>G | XP_011537079.1:p.Thr226= | |
| XM_011538778.1:c.663C>G | XP_011537080.1:p.Thr221= | |
| XM_011538779.1:c.579C>G | XP_011537081.1:p.Thr193= | |
| XM_011538780.1:c.564C>G | XP_011537082.1:p.Thr188= | |
| XM_011538778.2:c.663C>G | XP_011537080.1:p.Thr221= | |
| XM_011538780.2:c.564C>G | XP_011537082.1:p.Thr188= | |
| XR_001748875.2:n.684C>G | ||
| NM_015665.6:c.663C>G MANE Select | NP_056480.1:p.Thr221= | |
| NM_001173466.2:c.564C>G | NP_001166937.1:p.Thr188= |