Linked Data
ClinVar Variation Id:
2146858
ClinVar RCV Id:
RCV003076895
dbSNP Id:
rs775040894
ExAC:
19:7589855 C / A
gnomAD v2:
19-7589855-C-A
gnomAD v4:
19-7524969-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7524969C>A , CM000681.2:g.7524969C>A | GRCh38 |
| NC_000019.9:g.7589855C>A , CM000681.1:g.7589855C>A | GRCh37 |
| NC_000019.8:g.7495855C>A | NCBI36 |
| NG_015806.1:g.7360C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.40C>A MANE Select | ENSP00000264079.5:p.Arg14= | |
| ENST00000264079.10:c.40C>A | ENSP00000264079.5:p.Arg14= | |
| ENST00000394321.9:n.120C>A | ||
| ENST00000596390.1:n.156C>A | ||
| ENST00000601003.1:c.40C>A | ENSP00000469074.1:p.Arg14= | |
| NM_020533.2:c.40C>A | NP_065394.1:p.Arg14= | |
| XR_936293.2:n.12G>T | ||
| XR_936294.2:n.12G>T | ||
| NM_020533.3:c.40C>A MANE Select | NP_065394.1:p.Arg14= |