Linked Data
ClinVar Variation Id:
526732
ClinVar RCV Id:
RCV000631335
dbSNP Id:
rs1553260399
gnomAD v4:
1-156861074-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156861074G>C , CM000663.2:g.156861074G>C | GRCh38 |
| NC_000001.10:g.156830866G>C , CM000663.1:g.156830866G>C | GRCh37 |
| NC_000001.9:g.155097490G>C | NCBI36 |
| NG_007493.1:g.50325G>C , LRG_261:g.50325G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.51-3280G>C | ENSP00000502725.1:n.51-3280G>C | |
| ENST00000392302.7:c.51-3280G>C | ENSP00000376120.3:n.51-3280G>C | |
| ENST00000497019.7:c.51-3280G>C | ENSP00000436804.2:n.51-3280G>C | |
| ENST00000524377.7:c.140G>C MANE Select | ENSP00000431418.1:p.Gly47Ala | |
| ENST00000674537.1:c.51-3280G>C | ENSP00000502725.1:n.51-3280G>C | |
| ENST00000675461.1:c.140G>C | ENSP00000501668.1:p.Gly47Ala | |
| ENST00000358660.3:c.140G>C | ENSP00000351486.3:p.Gly47Ala | |
| ENST00000368196.7:c.140G>C | ENSP00000357179.3:p.Gly47Ala | |
| ENST00000392302.6:c.123-3280G>C | ENSP00000376120.2:n.123-3280G>C | |
| ENST00000489021.6:n.313-12559G>C | ||
| ENST00000497019.6:c.123-3280G>C | ENSP00000436804.1:n.123-3280G>C | |
| ENST00000524377.5:c.140G>C | ENSP00000431418.1:p.Gly47Ala | |
| ENST00000530298.5:n.271-3280G>C | ||
| ENST00000533630.1:n.162G>C | ||
| NM_001007792.1:c.123-3280G>C , LRG_261t1:c.123-3280G>C | NP_001007793.1:n.123-3280G>C | |
| NM_001012331.1:c.140G>C , LRG_261t2:c.140G>C | NP_001012331.1:p.Gly47Ala | |
| NM_002529.3:c.140G>C , LRG_261t3:c.140G>C | NP_002520.2:p.Gly47Ala | |
| NM_001012331.2:c.140G>C | NP_001012331.1:p.Gly47Ala | |
| NM_002529.4:c.140G>C MANE Select | NP_002520.2:p.Gly47Ala |