Linked Data
ClinVar Variation Id:
46224
ClinVar RCV Id:
RCV000039467
dbSNP Id:
rs397517410
ExAC:
19:4090587 C / T
gnomAD v2:
19-4090587-C-T
gnomAD v3:
19-4090589-C-T
gnomAD v4:
19-4090589-C-T
MyVariant Identifiers:
chr19:g.4090587C>T (hg19)
chr19:g.4090587_4090588delinsTG (hg19)
chr19:g.4090589C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090589C>T , CM000681.2:g.4090589C>T | GRCh38 |
| NC_000019.9:g.4090587C>T , CM000681.1:g.4090587C>T | GRCh37 |
| NC_000019.8:g.4041587C>T | NCBI36 |
| NG_007996.1:g.38540G>A , LRG_750:g.38540G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1651G>A | ||
| ENST00000688002.1:n.3363G>A | ||
| ENST00000688751.1:n.348G>A | ||
| ENST00000689792.1:n.1116G>A | ||
| ENST00000262948.10:c.*9G>A MANE Select | ENSP00000262948.4:n.*9G>A | |
| ENST00000262948.9:c.*9G>A | ENSP00000262948.3:n.*9G>A | |
| ENST00000394867.8:c.*9G>A | ENSP00000378336.1:n.*9G>A | |
| ENST00000597263.5:n.397G>A | ||
| ENST00000600584.5:n.2661G>A | ||
| ENST00000601786.5:n.1513G>A | ||
| NM_030662.3:c.*9G>A , LRG_750t1:c.*9G>A | NP_109587.1:n.*9G>A | |
| XM_006722799.2:c.*9G>A | XP_006722862.1:n.*9G>A | |
| XM_011528133.1:c.*9G>A | XP_011526435.1:n.*9G>A | |
| NM_030662.4:c.*9G>A MANE Select | NP_109587.1:n.*9G>A |