Linked Data
ClinVar Variation Id:
765202
ClinVar RCV Id:
RCV000943596
dbSNP Id:
rs377722898
ExAC:
3:150690256 G / C
gnomAD v2:
3-150690256-G-C
gnomAD v4:
3-150972469-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972469G>C , CM000665.2:g.150972469G>C | GRCh38 |
| NC_000003.11:g.150690256G>C , CM000665.1:g.150690256G>C | GRCh37 |
| NC_000003.10:g.152172946G>C | NCBI36 |
| NG_009168.1:g.5531C>G , LRG_700:g.5531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.240C>G MANE Select | ENSP00000322280.1:p.Pro80= | |
| ENST00000468836.2:c.216C>G | ENSP00000419892.2:p.Pro72= | |
| ENST00000644099.1:c.81C>G | ENSP00000494762.1:p.Pro27= | |
| ENST00000645441.1:c.82C>G | ||
| ENST00000327047.5:c.240C>G | ENSP00000322280.1:p.Pro80= | |
| ENST00000328863.8:c.240C>G | ENSP00000329158.4:p.Pro80= | |
| ENST00000468836.1:c.-161C>G | ENSP00000419892.1:n.-161C>G | |
| ENST00000472224.1:n.246C>G | ||
| NM_001195794.1:c.240C>G , LRG_700t1:c.240C>G | NP_001182723.1:p.Pro80= | |
| NM_001256819.1:c.240C>G | NP_001243748.1:p.Pro80= | |
| NM_174878.2:c.240C>G | NP_777367.1:p.Pro80= | |
| NR_046380.2:n.531C>G | ||
| XR_924167.1:n.552C>G | ||
| NM_001256819.2:c.240C>G | NP_001243748.1:p.Pro80= | |
| NM_174878.3:c.240C>G MANE Select | NP_777367.1:p.Pro80= | |
| NR_046380.3:n.259C>G |