Linked Data
ClinVar Variation Id:
1661545
ClinVar RCV Id:
RCV002193132
dbSNP Id:
rs2146023555
gnomAD v4:
19-7527575-C-A
MyVariant Identifiers:
chr19:g.7592461C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527575C>A , CM000681.2:g.7527575C>A | GRCh38 |
| NC_000019.9:g.7592461C>A , CM000681.1:g.7592461C>A | GRCh37 |
| NC_000019.8:g.7498461C>A | NCBI36 |
| NG_015806.1:g.9966C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.627C>A MANE Select | ENSP00000264079.5:p.Leu209= | |
| ENST00000264079.10:c.627C>A | ENSP00000264079.5:p.Leu209= | |
| ENST00000394321.9:n.707C>A | ||
| ENST00000598406.1:n.448C>A | ||
| ENST00000601003.1:c.572-289C>A | ENSP00000469074.1:n.572-289C>A | |
| NM_020533.2:c.627C>A | NP_065394.1:p.Leu209= | |
| NM_020533.3:c.627C>A MANE Select | NP_065394.1:p.Leu209= |