ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156873822G>C , CM000663.2:g.156873822G>C | GRCh38 |
| NC_000001.10:g.156843614G>C , CM000663.1:g.156843614G>C | GRCh37 |
| NC_000001.9:g.155110238G>C | NCBI36 |
| NG_007493.1:g.63073G>C , LRG_261:g.63073G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.878G>C | ENSP00000502725.1:p.Arg293Pro | |
| ENST00000392302.7:c.878G>C | ENSP00000376120.3:p.Arg293Pro | |
| ENST00000497019.7:c.745G>C | ENSP00000436804.2:p.Ala249Pro | |
| ENST00000524377.7:c.1040G>C MANE Select | ENSP00000431418.1:p.Arg347Pro | |
| ENST00000674537.1:c.878G>C | ENSP00000502725.1:p.Arg293Pro | |
| ENST00000358660.3:c.1040G>C | ENSP00000351486.3:p.Arg347Pro | |
| ENST00000368196.7:c.1040G>C | ENSP00000357179.3:p.Arg347Pro | |
| ENST00000392302.6:c.950G>C | ENSP00000376120.2:p.Arg317Pro | |
| ENST00000489021.6:n.502G>C | ||
| ENST00000497019.6:c.817G>C | ENSP00000436804.1:p.Ala273Pro | |
| ENST00000524377.5:c.1040G>C | ENSP00000431418.1:p.Arg347Pro | |
| ENST00000530298.5:n.1098G>C | ||
| NM_001007792.1:c.950G>C , LRG_261t1:c.950G>C | NP_001007793.1:p.Arg317Pro | |
| NM_001012331.1:c.1040G>C , LRG_261t2:c.1040G>C | NP_001012331.1:p.Arg347Pro | |
| NM_002529.3:c.1040G>C , LRG_261t3:c.1040G>C | NP_002520.2:p.Arg347Pro | |
| NM_001012331.2:c.1040G>C | NP_001012331.1:p.Arg347Pro | |
| NM_002529.4:c.1040G>C MANE Select | NP_002520.2:p.Arg347Pro |