Linked Data
ClinVar Variation Id:
12303
ClinVar RCV Id:
RCV000013097
dbSNP Id:
rs35669708
ExAC:
1:156851382 G / C
gnomAD v2:
1-156851382-G-C
gnomAD v4:
1-156881590-G-C
PubMed:
PMID:10090906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156881590G>C , CM000663.2:g.156881590G>C | GRCh38 |
| NC_000001.10:g.156851382G>C , CM000663.1:g.156851382G>C | GRCh37 |
| NC_000001.9:g.155118006G>C | NCBI36 |
| NG_007493.1:g.70841G>C , LRG_261:g.70841G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.2159G>C | ENSP00000502725.1:p.Arg720Pro | |
| ENST00000392302.7:c.2159G>C | ENSP00000376120.3:p.Arg720Pro | |
| ENST00000497019.7:c.*931G>C | ENSP00000436804.2:n.*931G>C | |
| ENST00000524377.7:c.2339G>C MANE Select | ENSP00000431418.1:p.Arg780Pro | |
| ENST00000531606.2:c.398G>C | ||
| ENST00000674537.1:c.2159G>C | ENSP00000502725.1:p.Arg720Pro | |
| ENST00000358660.3:c.2330G>C | ENSP00000351486.3:p.Arg777Pro | |
| ENST00000368196.7:c.2321G>C | ENSP00000357179.3:p.Arg774Pro | |
| ENST00000392302.6:c.2231G>C | ENSP00000376120.2:p.Arg744Pro | |
| ENST00000497019.6:c.*931G>C | ENSP00000436804.1:n.*931G>C | |
| ENST00000524377.5:c.2339G>C | ENSP00000431418.1:p.Arg780Pro | |
| ENST00000530298.5:n.2792G>C | ||
| ENST00000531606.1:n.382G>C | ||
| NM_001007792.1:c.2231G>C , LRG_261t1:c.2231G>C | NP_001007793.1:p.Arg744Pro | |
| NM_001012331.1:c.2321G>C , LRG_261t2:c.2321G>C | NP_001012331.1:p.Arg774Pro | |
| NM_002529.3:c.2339G>C , LRG_261t3:c.2339G>C | NP_002520.2:p.Arg780Pro | |
| NM_001012331.2:c.2321G>C | NP_001012331.1:p.Arg774Pro | |
| NM_002529.4:c.2339G>C MANE Select | NP_002520.2:p.Arg780Pro |