Linked Data
ClinVar Variation Id:
381474
dbSNP Id:
rs755448851
ExAC:
1:229567276 G / A
gnomAD v2:
1-229567276-G-A
gnomAD v4:
1-229431529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431529G>A , CM000663.2:g.229431529G>A | GRCh38 |
| NC_000001.10:g.229567276G>A , CM000663.1:g.229567276G>A | GRCh37 |
| NC_000001.9:g.227633899G>A | NCBI36 |
| NG_006672.1:g.7568C>T , LRG_429:g.7568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.1026C>T | ENSP00000355644.4:p.Gly342= | |
| ENST00000684723.1:c.969C>T | ENSP00000508084.1:p.Gly323= | |
| ENST00000366683.3:c.735C>T | ENSP00000355644.3:p.Gly245= | |
| ENST00000366684.7:c.1104C>T MANE Select | ENSP00000355645.3:p.Gly368= | |
| NM_001100.3:c.1104C>T , LRG_429t1:c.1104C>T | NP_001091.1:p.Gly368= | |
| NM_001100.4:c.1104C>T MANE Select | NP_001091.1:p.Gly368= |