Linked Data
ClinVar Variation Id:
509596
ClinVar RCV Id:
RCV000602446
dbSNP Id:
rs768457898
ExAC:
18:19379809 C / G
gnomAD v2:
18-19379809-C-G
gnomAD v4:
18-21799848-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21799848C>G , CM000680.2:g.21799848C>G | GRCh38 |
| NC_000018.9:g.19379809C>G , CM000680.1:g.19379809C>G | GRCh37 |
| NC_000018.8:g.17633807C>G | NCBI36 |
| NG_033272.2:g.99892C>G , LRG_759:g.99892C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.1245C>G MANE Select | ENSP00000261537.6:p.Leu415= | |
| ENST00000261537.6:c.1245C>G | ENSP00000261537.6:p.Leu415= | |
| ENST00000577749.5:n.153C>G | ||
| ENST00000578646.5:n.1222C>G | ||
| NM_020774.3:c.1245C>G , LRG_759t1:c.1245C>G | NP_065825.1:p.Leu415= | |
| XR_935234.1:n.2036C>G | ||
| XR_935235.1:n.2036C>G | ||
| XM_017025873.1:c.729C>G | XP_016881362.1:p.Leu243= | |
| XM_017025874.1:c.1245C>G | XP_016881363.1:p.Leu415= | |
| XM_017025875.1:c.1245C>G | XP_016881364.1:p.Leu415= | |
| NM_020774.4:c.1245C>G MANE Select | NP_065825.1:p.Leu415= |