Linked Data
ClinVar Variation Id:
1112239
dbSNP Id:
rs755138169
gnomAD v4:
19-41424578-G-A
MyVariant Identifiers:
chr19:g.41930483G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424578G>A , CM000681.2:g.41424578G>A | GRCh38 |
| NC_000019.9:g.41930483G>A , CM000681.1:g.41930483G>A | GRCh37 |
| NC_000019.8:g.46622323G>A | NCBI36 |
| NG_013004.1:g.31790G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1308G>A MANE Select | ENSP00000269980.2:p.Glu436= | |
| ENST00000269980.6:c.1308G>A | ENSP00000269980.2:p.Glu436= | |
| ENST00000457836.6:c.1317G>A | ENSP00000416000.2:p.Glu439= | |
| ENST00000540732.3:c.1410G>A | ENSP00000443246.1:p.Glu470= | |
| ENST00000544905.1:c.138G>A | ||
| ENST00000595085.5:c.922+1881G>A | ENSP00000471150.2:n.922+1881G>A | |
| NM_000709.3:c.1308G>A | NP_000700.1:p.Glu436= | |
| NM_001164783.1:c.1305G>A | NP_001158255.1:p.Glu435= | |
| NM_000709.4:c.1308G>A MANE Select | NP_000700.1:p.Glu436= | |
| NM_001164783.2:c.1305G>A | NP_001158255.1:p.Glu435= |