Linked Data
ClinVar Variation Id:
2359580
ClinVar RCV Id:
RCV004205313
dbSNP Id:
rs764670510
ExAC:
19:46270285 G / A
gnomAD v2:
19-46270285-G-A
gnomAD v3:
19-45767027-G-A
gnomAD v4:
19-45767027-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45767027G>A , CM000681.2:g.45767027G>A | GRCh38 |
| NC_000019.9:g.46270285G>A , CM000681.1:g.46270285G>A | GRCh37 |
| NC_000019.8:g.50962125G>A | NCBI36 |
| NG_012745.1:g.7213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.932C>T MANE Select | ENSP00000316842.4:p.Pro311Leu | |
| ENST00000317578.6:c.932C>T | ENSP00000316842.4:p.Pro311Leu | |
| ENST00000560160.1:c.587-916C>T | ||
| ENST00000560168.1:c.*120C>T | ENSP00000453189.2:n.*120C>T | |
| ENST00000622857.1:c.16-1065C>T | ENSP00000481365.1:n.16-1065C>T | |
| NM_175875.4:c.932C>T | NP_787071.2:p.Pro311Leu | |
| NM_175875.5:c.932C>T MANE Select | NP_787071.3:p.Pro311Leu |