Linked Data
ClinVar Variation Id:
161648
ClinVar RCV Id:
RCV000149184
dbSNP Id:
rs193921036
COSMIC:
COSM74239
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47665221G>C , CM000666.2:g.47665221G>C | GRCh38 |
| NC_000004.11:g.47667238G>C , CM000666.1:g.47667238G>C | GRCh37 |
| NC_000004.10:g.47361995G>C | NCBI36 |
| NG_032679.1:g.177822C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273857.9:c.1400C>G MANE Select | ENSP00000273857.4:p.Pro467Arg | |
| ENST00000273857.8:c.1400C>G | ENSP00000273857.4:p.Pro467Arg | |
| ENST00000502252.5:c.1199C>G | ENSP00000424212.1:p.Pro400Arg | |
| ENST00000503821.5:n.1407C>G | ||
| ENST00000504584.1:c.1289C>G | ENSP00000423216.1:p.Pro430Arg | |
| ENST00000505909.5:c.1289C>G | ENSP00000425401.1:p.Pro430Arg | |
| ENST00000508498.5:c.983C>G | ENSP00000425597.1:p.Pro328Arg | |
| ENST00000610355.4:c.1088C>G | ENSP00000484087.1:p.Pro363Arg | |
| NM_001278585.1:c.1088C>G | NP_001265514.1:p.Pro363Arg | |
| NM_001278586.1:c.1289C>G | NP_001265515.1:p.Pro430Arg | |
| NM_006587.3:c.1400C>G | NP_006578.2:p.Pro467Arg | |
| NM_006587.4:c.1400C>G MANE Select | NP_006578.2:p.Pro467Arg | |
| NM_001278586.2:c.1289C>G | NP_001265515.1:p.Pro430Arg | |
| NM_001278585.2:c.1088C>G | NP_001265514.1:p.Pro363Arg |