Linked Data
ClinVar Variation Id:
31057
ClinVar RCV Id:
RCV000024051
dbSNP Id:
rs387907089
gnomAD v2:
3-43596909-A-C
gnomAD v4:
3-43555417-A-C
PubMed:
PMID:21092923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43555417A>C , CM000665.2:g.43555417A>C | GRCh38 |
| NC_000003.11:g.43596909A>C , CM000665.1:g.43596909A>C | GRCh37 |
| NC_000003.10:g.43571913A>C | NCBI36 |
| NG_028216.1:g.71652T>G | |
| NG_028216.2:g.141178T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292246.8:c.1529T>G MANE Select | ENSP00000292246.3:p.Leu510Arg | |
| ENST00000292246.7:c.1529T>G | ENSP00000292246.3:p.Leu510Arg | |
| ENST00000350459.8:c.959T>G | ENSP00000327767.4:p.Leu320Arg | |
| ENST00000396091.7:c.1331T>G | ENSP00000379398.3:p.Leu444Arg | |
| ENST00000414522.6:c.1529T>G | ENSP00000396990.2:p.Leu510Arg | |
| ENST00000451430.6:c.1196T>G | ENSP00000394119.2:p.Leu399Arg | |
| NM_001204831.1:c.1529T>G | NP_001191760.1:p.Leu510Arg | |
| NM_001204832.1:c.1331T>G | NP_001191761.1:p.Leu444Arg | |
| NM_001204833.1:c.1196T>G | NP_001191762.1:p.Leu399Arg | |
| NM_001204834.1:c.959T>G | NP_001191763.1:p.Leu320Arg | |
| NM_018075.3:c.1529T>G | NP_060545.3:p.Leu510Arg | |
| XM_011533882.1:c.1529T>G | XP_011532184.1:p.Leu510Arg | |
| XM_011533883.1:c.1529T>G | XP_011532185.1:p.Leu510Arg | |
| XM_011533884.1:c.1529T>G | XP_011532186.1:p.Leu510Arg | |
| XM_011533885.1:c.1529T>G | XP_011532187.1:p.Leu510Arg | |
| XM_011533886.1:c.1529T>G | XP_011532188.1:p.Leu510Arg | |
| XM_011533887.1:c.1529T>G | XP_011532189.1:p.Leu510Arg | |
| XM_011533888.1:c.1331T>G | XP_011532190.1:p.Leu444Arg | |
| XM_011533889.1:c.1529T>G | XP_011532191.1:p.Leu510Arg | |
| XM_011533890.1:c.1529T>G | XP_011532192.1:p.Leu510Arg | |
| NM_001204831.2:c.1529T>G | NP_001191760.1:p.Leu510Arg | |
| NM_001204832.2:c.1331T>G | NP_001191761.1:p.Leu444Arg | |
| NM_001204833.2:c.1196T>G | NP_001191762.1:p.Leu399Arg | |
| NM_001204834.2:c.959T>G | NP_001191763.1:p.Leu320Arg | |
| NM_001346463.1:c.1529T>G | NP_001333392.1:p.Leu510Arg | |
| NM_001346464.1:c.1529T>G | NP_001333393.1:p.Leu510Arg | |
| NM_001346465.1:c.1529T>G | NP_001333394.1:p.Leu510Arg | |
| NM_001346466.1:c.1331T>G | NP_001333395.1:p.Leu444Arg | |
| NM_001346467.1:c.1529T>G | NP_001333396.1:p.Leu510Arg | |
| NM_001346468.1:c.1529T>G | NP_001333397.1:p.Leu510Arg | |
| NM_001346469.1:c.1331T>G | NP_001333398.1:p.Leu444Arg | |
| NM_018075.4:c.1529T>G | NP_060545.3:p.Leu510Arg | |
| XM_011533885.3:c.1529T>G | XP_011532187.2:p.Leu510Arg | |
| XM_011533889.3:c.1529T>G | XP_011532191.1:p.Leu510Arg | |
| XM_011533890.3:c.1529T>G | XP_011532192.1:p.Leu510Arg | |
| XM_017006717.2:c.1529T>G | XP_016862206.1:p.Leu510Arg | |
| XM_017006718.1:c.1529T>G | XP_016862207.1:p.Leu510Arg | |
| XM_017006719.2:c.1331T>G | XP_016862208.1:p.Leu444Arg | |
| XM_024453616.1:c.1529T>G | XP_024309384.1:p.Leu510Arg | |
| XM_024453617.1:c.1331T>G | XP_024309385.1:p.Leu444Arg | |
| XR_001740190.2:n.1645T>G | ||
| NM_018075.5:c.1529T>G MANE Select | NP_060545.3:p.Leu510Arg | |
| NM_001204831.3:c.1529T>G | NP_001191760.1:p.Leu510Arg | |
| NM_001204832.3:c.1331T>G | NP_001191761.1:p.Leu444Arg | |
| NM_001204833.3:c.1196T>G | NP_001191762.1:p.Leu399Arg | |
| NM_001204834.3:c.959T>G | NP_001191763.1:p.Leu320Arg | |
| NM_001346463.2:c.1529T>G | NP_001333392.1:p.Leu510Arg | |
| NM_001346464.2:c.1529T>G | NP_001333393.1:p.Leu510Arg | |
| NM_001346465.2:c.1529T>G | NP_001333394.1:p.Leu510Arg | |
| NM_001346466.2:c.1331T>G | NP_001333395.1:p.Leu444Arg | |
| NM_001346467.2:c.1529T>G | NP_001333396.1:p.Leu510Arg | |
| NM_001346468.2:c.1529T>G | NP_001333397.1:p.Leu510Arg | |
| NM_001346469.2:c.1331T>G | NP_001333398.1:p.Leu444Arg |