Linked Data
dbSNP Id:
rs1568554745
gnomAD v2:
19-18896728-A-T
gnomAD v3:
19-18785918-A-T
gnomAD v4:
19-18785918-A-T
MyVariant Identifiers:
chr19:g.18896728_18896729delinsTG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785918A>T , CM000681.2:g.18785918A>T | GRCh38 |
| NC_000019.9:g.18896728A>T , CM000681.1:g.18896728A>T | GRCh37 |
| NC_000019.8:g.18757728A>T | NCBI36 |
| NG_007070.1:g.10387T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1489+47T>A MANE Select | ENSP00000222271.2:n.1489+47T>A | |
| ENST00000222271.6:c.1489+47T>A | ENSP00000222271.2:n.1489+47T>A | |
| ENST00000425807.1:c.1330+47T>A | ENSP00000403792.1:n.1330+47T>A | |
| ENST00000542601.6:c.1390+47T>A | ENSP00000439156.2:n.1390+47T>A | |
| NM_000095.2:c.1489+47T>A | NP_000086.2:n.1489+47T>A | |
| NM_000095.3:c.1489+47T>A MANE Select | NP_000086.2:n.1489+47T>A |