Linked Data
ClinVar Variation Id:
2776821
ClinVar RCV Id:
RCV003633746
dbSNP Id:
rs2102735921
MyVariant Identifiers:
chr1:g.229568095G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432348G>A , CM000663.2:g.229432348G>A | GRCh38 |
| NC_000001.10:g.229568095G>A , CM000663.1:g.229568095G>A | GRCh37 |
| NC_000001.9:g.227634718G>A | NCBI36 |
| NG_006672.1:g.6749C>T , LRG_429:g.6749C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.538C>T | ENSP00000355644.4:p.Leu180= | |
| ENST00000684723.1:c.403C>T | ENSP00000508084.1:p.Leu135= | |
| ENST00000366683.3:c.479+59C>T | ENSP00000355644.3:n.479+59C>T | |
| ENST00000366684.7:c.538C>T MANE Select | ENSP00000355645.3:p.Leu180= | |
| NM_001100.3:c.538C>T , LRG_429t1:c.538C>T | NP_001091.1:p.Leu180= | |
| NM_001100.4:c.538C>T MANE Select | NP_001091.1:p.Leu180= |