Linked Data
ClinVar Variation Id:
985103
ClinVar RCV Id:
RCV001265840
dbSNP Id:
rs1057519947
COSMIC:
COSM1681305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.52212730G>C , CM000681.2:g.52212730G>C | GRCh38 |
| NC_000019.9:g.52715983G>C , CM000681.1:g.52715983G>C | GRCh37 |
| NC_000019.8:g.57407795G>C | NCBI36 |
| NG_047068.1:g.27929G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000454220.7:c.668G>C | ENSP00000391905.3:p.Arg223Pro | |
| ENST00000703395.1:c.11G>C | ENSP00000515286.1:p.Arg4Pro | |
| ENST00000703396.1:n.492G>C | ||
| ENST00000703397.1:c.11G>C | ENSP00000515287.1:p.Arg4Pro | |
| ENST00000703398.1:c.590G>C | ENSP00000515288.1:p.Arg197Pro | |
| ENST00000703421.1:n.701G>C | ||
| ENST00000703422.1:c.524G>C | ENSP00000515292.1:p.Arg175Pro | |
| ENST00000703423.1:c.11G>C | ENSP00000515293.1:p.Arg4Pro | |
| ENST00000322088.11:c.548G>C MANE Select | ENSP00000324804.6:p.Arg183Pro | |
| ENST00000322088.10:c.548G>C | ENSP00000324804.6:p.Arg183Pro | |
| ENST00000454220.6:c.668G>C | ENSP00000391905.2:p.Arg223Pro | |
| ENST00000462047.1:n.239G>C | ||
| ENST00000462990.5:c.11G>C | ENSP00000470504.1:p.Arg4Pro | |
| NM_014225.5:c.548G>C | NP_055040.2:p.Arg183Pro | |
| NR_033500.1:n.742G>C | ||
| NM_001363656.1:c.11G>C | NP_001350585.1:p.Arg4Pro | |
| NM_014225.6:c.548G>C MANE Select | NP_055040.2:p.Arg183Pro | |
| NM_001363656.2:c.11G>C | NP_001350585.1:p.Arg4Pro | |
| NR_033500.2:n.492G>C |