Linked Data
ClinVar Variation Id:
734643
dbSNP Id:
rs145765578
ExAC:
18:58038746 G / A
gnomAD v2:
18-58038746-G-A
gnomAD v3:
18-60371513-G-A
gnomAD v4:
18-60371513-G-A
MyVariant Identifiers:
chr18:g.58038746G>A (hg19)
chr18:g.58038746_58038748delinsACA (hg19)
chr18:g.60371513G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371513G>A , CM000680.2:g.60371513G>A | GRCh38 |
| NC_000018.9:g.58038746G>A , CM000680.1:g.58038746G>A | GRCh37 |
| NC_000018.8:g.56189726G>A | NCBI36 |
| NG_016441.1:g.6256C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.837C>T MANE Select | ENSP00000299766.3:p.Cys279= | |
| ENST00000299766.4:c.837C>T | ENSP00000299766.3:p.Cys279= | |
| NM_005912.2:c.837C>T | NP_005903.2:p.Cys279= | |
| NM_005912.3:c.837C>T MANE Select | NP_005903.2:p.Cys279= |