Linked Data
ClinVar Variation Id:
760465
ClinVar RCV Id:
RCV001445770
dbSNP Id:
rs759606148
ExAC:
1:229568078 G / A
gnomAD v2:
1-229568078-G-A
gnomAD v3:
1-229432331-G-A
gnomAD v4:
1-229432331-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432331G>A , CM000663.2:g.229432331G>A | GRCh38 |
| NC_000001.10:g.229568078G>A , CM000663.1:g.229568078G>A | GRCh37 |
| NC_000001.9:g.227634701G>A | NCBI36 |
| NG_006672.1:g.6766C>T , LRG_429:g.6766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.555C>T | ENSP00000355644.4:p.Arg185= | |
| ENST00000684723.1:c.420C>T | ENSP00000508084.1:p.Arg140= | |
| ENST00000366683.3:c.479+76C>T | ENSP00000355644.3:n.479+76C>T | |
| ENST00000366684.7:c.555C>T MANE Select | ENSP00000355645.3:p.Arg185= | |
| NM_001100.3:c.555C>T , LRG_429t1:c.555C>T | NP_001091.1:p.Arg185= | |
| NM_001100.4:c.555C>T MANE Select | NP_001091.1:p.Arg185= |