Linked Data
ClinVar Variation Id:
511235
dbSNP Id:
rs1025502215
gnomAD v2:
1-229568827-G-A
gnomAD v3:
1-229433080-G-A
gnomAD v4:
1-229433080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229433080G>A , CM000663.2:g.229433080G>A | GRCh38 |
| NC_000001.10:g.229568827G>A , CM000663.1:g.229568827G>A | GRCh37 |
| NC_000001.9:g.227635450G>A | NCBI36 |
| NG_006672.1:g.6017C>T , LRG_429:g.6017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.36C>T | ENSP00000355644.4:p.Cys12= | |
| ENST00000684723.1:c.-6-200C>T | ENSP00000508084.1:n.-6-200C>T | |
| ENST00000366683.3:c.36C>T | ENSP00000355644.3:p.Cys12= | |
| ENST00000366684.7:c.36C>T MANE Select | ENSP00000355645.3:p.Cys12= | |
| NM_001100.3:c.36C>T , LRG_429t1:c.36C>T | NP_001091.1:p.Cys12= | |
| NM_001100.4:c.36C>T MANE Select | NP_001091.1:p.Cys12= |