Linked Data
ClinVar Variation Id:
2801893
ClinVar RCV Id:
RCV003676390
dbSNP Id:
rs746285487
ExAC:
19:46270190 C / T
gnomAD v2:
19-46270190-C-T
gnomAD v3:
19-45766932-C-T
gnomAD v4:
19-45766932-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766932C>T , CM000681.2:g.45766932C>T | GRCh38 |
| NC_000019.9:g.46270190C>T , CM000681.1:g.46270190C>T | GRCh37 |
| NC_000019.8:g.50962030C>T | NCBI36 |
| NG_012745.1:g.7308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1027G>A MANE Select | ENSP00000316842.4:p.Val343Ile | |
| ENST00000317578.6:c.1027G>A | ENSP00000316842.4:p.Val343Ile | |
| ENST00000560160.1:c.587-821G>A | ||
| ENST00000560168.1:c.*215G>A | ENSP00000453189.2:n.*215G>A | |
| ENST00000622857.1:c.16-970G>A | ENSP00000481365.1:n.16-970G>A | |
| NM_175875.4:c.1027G>A | NP_787071.2:p.Val343Ile | |
| NM_175875.5:c.1027G>A MANE Select | NP_787071.3:p.Val343Ile |