Linked Data
ClinVar Variation Id:
1381932
ClinVar RCV Id:
RCV003745392
dbSNP Id:
rs878853416
gnomAD v4:
5-112819237-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112819237G>C , CM000667.2:g.112819237G>C | GRCh38 |
| NC_000005.9:g.112154934G>C , CM000667.1:g.112154934G>C | GRCh37 |
| NC_000005.8:g.112182833G>C | NCBI36 |
| NG_008481.4:g.131717G>C , LRG_130:g.131717G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1205G>C | ENSP00000484935.2:p.Arg402Pro | |
| ENST00000504915.3:c.1205G>C | ENSP00000473355.2:p.Arg402Pro | |
| ENST00000505084.2:n.1261G>C | ||
| ENST00000505350.2:c.*1211G>C | ENSP00000481752.1:n.*1211G>C | |
| ENST00000507379.6:c.1151G>C | ENSP00000423224.2:p.Arg384Pro | |
| ENST00000509732.6:c.1205G>C | ENSP00000426541.2:p.Arg402Pro | |
| ENST00000512211.7:c.1205G>C | ENSP00000423828.3:p.Arg402Pro | |
| ENST00000257430.9:c.1205G>C MANE Select | ENSP00000257430.4:p.Arg402Pro | |
| ENST00000257430.8:c.1205G>C | ENSP00000257430.4:p.Arg402Pro | |
| ENST00000507379.5:c.1151G>C | ENSP00000423224.1:p.Arg384Pro | |
| ENST00000508376.6:c.1205G>C | ENSP00000427089.2:p.Arg402Pro | |
| ENST00000508624.5:c.*527G>C | ENSP00000424265.1:n.*527G>C | |
| ENST00000512211.6:c.1205G>C | ENSP00000423828.2:p.Arg402Pro | |
| NM_000038.5:c.1205G>C | NP_000029.2:p.Arg402Pro | |
| NM_001127510.2:c.1205G>C | NP_001120982.1:p.Arg402Pro | |
| NM_001127511.2:c.1151G>C | NP_001120983.2:p.Arg384Pro | |
| NM_001354895.1:c.1205G>C | NP_001341824.1:p.Arg402Pro | |
| NM_001354896.1:c.1205G>C | NP_001341825.1:p.Arg402Pro | |
| NM_001354897.1:c.1235G>C | NP_001341826.1:p.Arg412Pro | |
| NM_001354898.1:c.1130G>C | NP_001341827.1:p.Arg377Pro | |
| NM_001354899.1:c.1121G>C | NP_001341828.1:p.Arg374Pro | |
| NM_001354900.1:c.1028G>C | NP_001341829.1:p.Arg343Pro | |
| NM_001354901.1:c.1028G>C | NP_001341830.1:p.Arg343Pro | |
| NM_001354902.1:c.964-32G>C | NP_001341831.1:n.964-32G>C | |
| NM_001354903.1:c.934-32G>C | NP_001341832.1:n.934-32G>C | |
| NM_001354904.1:c.859-32G>C | NP_001341833.1:n.859-32G>C | |
| NM_001354905.1:c.757-32G>C | NP_001341834.1:n.757-32G>C | |
| NM_001354906.1:c.356G>C | NP_001341835.1:p.Arg119Pro | |
| NM_000038.6:c.1205G>C MANE Select | NP_000029.2:p.Arg402Pro | |
| NM_001127510.3:c.1205G>C | NP_001120982.1:p.Arg402Pro | |
| NM_001127511.3:c.1151G>C | NP_001120983.2:p.Arg384Pro | |
| NM_001354895.2:c.1205G>C | NP_001341824.1:p.Arg402Pro | |
| NM_001354896.2:c.1205G>C | NP_001341825.1:p.Arg402Pro | |
| NM_001354897.2:c.1235G>C | NP_001341826.1:p.Arg412Pro | |
| NM_001354898.2:c.1130G>C | NP_001341827.1:p.Arg377Pro | |
| NM_001354899.2:c.1121G>C | NP_001341828.1:p.Arg374Pro | |
| NM_001354900.2:c.1028G>C | NP_001341829.1:p.Arg343Pro | |
| NM_001354901.2:c.1028G>C | NP_001341830.1:p.Arg343Pro | |
| NM_001354902.2:c.964-32G>C | NP_001341831.1:n.964-32G>C | |
| NM_001354903.2:c.934-32G>C | NP_001341832.1:n.934-32G>C | |
| NM_001354904.2:c.859-32G>C | NP_001341833.1:n.859-32G>C | |
| NM_001354905.2:c.757-32G>C | NP_001341834.1:n.757-32G>C | |
| NM_001354906.2:c.356G>C | NP_001341835.1:p.Arg119Pro |