Linked Data
ClinVar Variation Id:
629368
ClinVar RCV Id:
RCV000774070
dbSNP Id:
rs1568859087
MyVariant Identifiers:
chr19:g.55667572C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55156204C>T , CM000681.2:g.55156204C>T | GRCh38 |
| NC_000019.9:g.55667572C>T , CM000681.1:g.55667572C>T | GRCh37 |
| NC_000019.8:g.60359384C>T | NCBI36 |
| NG_007866.2:g.6529G>A , LRG_432:g.6529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.279G>A MANE Select | ENSP00000341838.5:p.Leu93= | |
| ENST00000665070.1:c.279G>A | ENSP00000499482.1:p.Leu93= | |
| ENST00000344887.9:c.279G>A | ENSP00000341838.5:p.Leu93= | |
| ENST00000585806.5:n.278G>A | ||
| ENST00000586669.5:n.287G>A | ||
| ENST00000587176.5:n.463G>A | ||
| ENST00000587871.1:c.898G>A | ||
| ENST00000588882.1:c.204G>A | ENSP00000466729.1:p.Leu68= | |
| ENST00000590463.1:n.451G>A | ||
| NM_000363.4:c.279G>A , LRG_432t1:c.279G>A | NP_000354.4:p.Leu93= | |
| NM_000363.5:c.279G>A MANE Select | NP_000354.4:p.Leu93= |