Linked Data
ClinVar Variation Id:
682292
ClinVar RCV Id:
RCV000842347
dbSNP Id:
rs200011109
ExAC:
19:46270203 G / T
gnomAD v2:
19-46270203-G-T
gnomAD v3:
19-45766945-G-T
gnomAD v4:
19-45766945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766945G>T , CM000681.2:g.45766945G>T | GRCh38 |
| NC_000019.9:g.46270203G>T , CM000681.1:g.46270203G>T | GRCh37 |
| NC_000019.8:g.50962043G>T | NCBI36 |
| NG_012745.1:g.7295C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1014C>A MANE Select | ENSP00000316842.4:p.Leu338= | |
| ENST00000317578.6:c.1014C>A | ENSP00000316842.4:p.Leu338= | |
| ENST00000560160.1:c.587-834C>A | ||
| ENST00000560168.1:c.*202C>A | ENSP00000453189.2:n.*202C>A | |
| ENST00000622857.1:c.16-983C>A | ENSP00000481365.1:n.16-983C>A | |
| NM_175875.4:c.1014C>A | NP_787071.2:p.Leu338= | |
| NM_175875.5:c.1014C>A MANE Select | NP_787071.3:p.Leu338= |