Linked Data
ClinVar Variation Id:
12302
ClinVar RCV Id:
RCV000013096
dbSNP Id:
rs121964866
PubMed:
PMID:8696348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876496G>C , CM000663.2:g.156876496G>C | GRCh38 |
| NC_000001.10:g.156846288G>C , CM000663.1:g.156846288G>C | GRCh37 |
| NC_000001.9:g.155112912G>C | NCBI36 |
| NG_007493.1:g.65747G>C , LRG_261:g.65747G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1549G>C | ENSP00000502725.1:p.Gly517Arg | |
| ENST00000392302.7:c.1549G>C | ENSP00000376120.3:p.Gly517Arg | |
| ENST00000497019.7:c.*321G>C | ENSP00000436804.2:n.*321G>C | |
| ENST00000524377.7:c.1729G>C MANE Select | ENSP00000431418.1:p.Gly577Arg | |
| ENST00000674537.1:c.1549G>C | ENSP00000502725.1:p.Gly517Arg | |
| ENST00000358660.3:c.1720G>C | ENSP00000351486.3:p.Gly574Arg | |
| ENST00000368196.7:c.1711G>C | ENSP00000357179.3:p.Gly571Arg | |
| ENST00000392302.6:c.1621G>C | ENSP00000376120.2:p.Gly541Arg | |
| ENST00000497019.6:c.*321G>C | ENSP00000436804.1:n.*321G>C | |
| ENST00000524377.5:c.1729G>C | ENSP00000431418.1:p.Gly577Arg | |
| ENST00000530298.5:n.2182G>C | ||
| NM_001007792.1:c.1621G>C , LRG_261t1:c.1621G>C | NP_001007793.1:p.Gly541Arg | |
| NM_001012331.1:c.1711G>C , LRG_261t2:c.1711G>C | NP_001012331.1:p.Gly571Arg | |
| NM_002529.3:c.1729G>C , LRG_261t3:c.1729G>C | NP_002520.2:p.Gly577Arg | |
| NM_001012331.2:c.1711G>C | NP_001012331.1:p.Gly571Arg | |
| NM_002529.4:c.1729G>C MANE Select | NP_002520.2:p.Gly577Arg |