Linked Data
ClinVar Variation Id:
839813
ClinVar RCV Id:
RCV001041658
dbSNP Id:
rs778582725
ExAC:
1:156834533 A / G
gnomAD v4:
1-156864741-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156864741A>G , CM000663.2:g.156864741A>G | GRCh38 |
| NC_000001.10:g.156834533A>G , CM000663.1:g.156834533A>G | GRCh37 |
| NC_000001.9:g.155101157A>G | NCBI36 |
| NG_007493.1:g.53992A>G , LRG_261:g.53992A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.139A>G | ENSP00000502725.1:p.Ser47Gly | |
| ENST00000392302.7:c.139A>G | ENSP00000376120.3:p.Ser47Gly | |
| ENST00000497019.7:c.139A>G | ENSP00000436804.2:p.Ser47Gly | |
| ENST00000524377.7:c.301A>G MANE Select | ENSP00000431418.1:p.Ser101Gly | |
| ENST00000674537.1:c.139A>G | ENSP00000502725.1:p.Ser47Gly | |
| ENST00000675461.1:c.301A>G | ENSP00000501668.1:p.Ser101Gly | |
| ENST00000358660.3:c.301A>G | ENSP00000351486.3:p.Ser101Gly | |
| ENST00000368196.7:c.301A>G | ENSP00000357179.3:p.Ser101Gly | |
| ENST00000392302.6:c.211A>G | ENSP00000376120.2:p.Ser71Gly | |
| ENST00000489021.6:n.313-8892A>G | ||
| ENST00000497019.6:c.211A>G | ENSP00000436804.1:p.Ser71Gly | |
| ENST00000524377.5:c.301A>G | ENSP00000431418.1:p.Ser101Gly | |
| ENST00000530298.5:n.359A>G | ||
| ENST00000533630.1:n.323A>G | ||
| NM_001007792.1:c.211A>G , LRG_261t1:c.211A>G | NP_001007793.1:p.Ser71Gly | |
| NM_001012331.1:c.301A>G , LRG_261t2:c.301A>G | NP_001012331.1:p.Ser101Gly | |
| NM_002529.3:c.301A>G , LRG_261t3:c.301A>G | NP_002520.2:p.Ser101Gly | |
| NM_001012331.2:c.301A>G | NP_001012331.1:p.Ser101Gly | |
| NM_002529.4:c.301A>G MANE Select | NP_002520.2:p.Ser101Gly |