Linked Data
ClinVar Variation Id:
515975
ClinVar RCV Id:
RCV000601237
dbSNP Id:
rs1555692874
gnomAD v4:
18-21803985-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21803985T>C , CM000680.2:g.21803985T>C | GRCh38 |
| NC_000018.9:g.19383946T>C , CM000680.1:g.19383946T>C | GRCh37 |
| NC_000018.8:g.17637944T>C | NCBI36 |
| NG_033272.2:g.104029T>C , LRG_759:g.104029T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.1450T>C MANE Select | ENSP00000261537.6:p.Leu484= | |
| ENST00000261537.6:c.1450T>C | ENSP00000261537.6:p.Leu484= | |
| ENST00000577749.5:n.358T>C | ||
| ENST00000578260.1:n.253T>C | ||
| ENST00000578646.5:n.1427T>C | ||
| NM_020774.3:c.1450T>C , LRG_759t1:c.1450T>C | NP_065825.1:p.Leu484= | |
| XR_935234.1:n.2241T>C | ||
| XR_935235.1:n.2241T>C | ||
| XM_017025873.1:c.934T>C | XP_016881362.1:p.Leu312= | |
| XM_017025874.1:c.1450T>C | XP_016881363.1:p.Leu484= | |
| XM_017025875.1:c.1450T>C | XP_016881364.1:p.Leu484= | |
| NM_020774.4:c.1450T>C MANE Select | NP_065825.1:p.Leu484= |