Linked Data
ClinVar Variation Id:
1518740
ClinVar RCV Id:
RCV002043542
dbSNP Id:
rs539829904
ExAC:
3:52156396 A / G
gnomAD v2:
3-52156396-A-G
gnomAD v4:
3-52122380-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52122380A>G , CM000665.2:g.52122380A>G | GRCh38 |
| NC_000003.11:g.52156396A>G , CM000665.1:g.52156396A>G | GRCh37 |
| NC_000003.10:g.52131436A>G | NCBI36 |
| NG_032947.1:g.37311T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296484.7:c.980T>C MANE Select | ENSP00000296484.2:p.Leu327Pro | |
| ENST00000296484.6:c.980T>C | ENSP00000296484.2:p.Leu327Pro | |
| ENST00000394970.6:c.980T>C | ENSP00000378421.2:p.Leu327Pro | |
| ENST00000474012.1:c.866T>C | ENSP00000418968.1:p.Leu289Pro | |
| NM_001161580.1:c.980T>C | NP_001155052.1:p.Leu327Pro | |
| NM_001161581.1:c.866T>C | NP_001155053.1:p.Leu289Pro | |
| NM_015426.4:c.980T>C | NP_056241.3:p.Leu327Pro | |
| XM_011533560.1:c.882+2733T>C | XP_011531862.1:n.882+2733T>C | |
| XM_011533561.1:c.882+2733T>C | XP_011531863.1:n.882+2733T>C | |
| XM_011533563.1:c.*7+2733T>C | XP_011531865.1:n.*7+2733T>C | |
| XM_011533564.1:c.*7+2733T>C | XP_011531866.1:n.*7+2733T>C | |
| XR_940401.1:n.1020T>C | ||
| XR_940402.1:n.886T>C | ||
| XR_940403.1:n.886T>C | ||
| XM_011533564.3:c.*7+2733T>C | XP_011531866.1:n.*7+2733T>C | |
| XM_017006104.1:c.866T>C | XP_016861593.1:p.Leu289Pro | |
| XR_001740088.1:n.1020T>C | ||
| NM_001161580.2:c.980T>C | NP_001155052.1:p.Leu327Pro | |
| NM_001161581.2:c.866T>C | NP_001155053.1:p.Leu289Pro | |
| NM_015426.5:c.980T>C MANE Select | NP_056241.3:p.Leu327Pro |