Linked Data
ClinVar Variation Id:
294597
ClinVar RCV Id:
RCV000325359
dbSNP Id:
rs886045760
gnomAD v4:
1-197088378-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197088378A>G , CM000663.2:g.197088378A>G | GRCh38 |
| NC_000001.10:g.197057508A>G , CM000663.1:g.197057508A>G | GRCh37 |
| NC_000001.9:g.195324131A>G | NCBI36 |
| NG_015867.1:g.63317T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.3326T>C | ||
| ENST00000367409.9:c.10039T>C MANE Select | ENSP00000356379.4:p.Leu3347= | |
| ENST00000680265.1:c.10261T>C | ENSP00000505384.1:p.Leu3421= | |
| ENST00000680710.1:c.10015T>C | ENSP00000506676.1:p.Leu3339= | |
| ENST00000294732.11:c.5284T>C | ENSP00000294732.7:p.Leu1762= | |
| ENST00000367408.5:c.3034T>C | ENSP00000356378.1:p.Leu1012= | |
| ENST00000367409.8:c.10039T>C | ENSP00000356379.4:p.Leu3347= | |
| ENST00000612785.1:c.3997T>C | ENSP00000479244.1:p.Leu1333= | |
| NM_001206846.1:c.5284T>C | NP_001193775.1:p.Leu1762= | |
| NM_018136.4:c.10039T>C | NP_060606.3:p.Leu3347= | |
| NM_018136.5:c.10039T>C MANE Select | NP_060606.3:p.Leu3347= | |
| NM_001206846.2:c.5284T>C | NP_001193775.1:p.Leu1762= |