Linked Data
ClinVar Variation Id:
14330
dbSNP Id:
rs121913563
ExAC:
18:58039060 C / T
gnomAD v2:
18-58039060-C-T
gnomAD v3:
18-60371827-C-T
gnomAD v4:
18-60371827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371827C>T , CM000680.2:g.60371827C>T | GRCh38 |
| NC_000018.9:g.58039060C>T , CM000680.1:g.58039060C>T | GRCh37 |
| NC_000018.8:g.56190040C>T | NCBI36 |
| NG_016441.1:g.5942G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.523G>A MANE Select | ENSP00000299766.3:p.Ala175Thr | |
| ENST00000299766.4:c.523G>A | ENSP00000299766.3:p.Ala175Thr | |
| NM_005912.2:c.523G>A | NP_005903.2:p.Ala175Thr | |
| NM_005912.3:c.523G>A MANE Select | NP_005903.2:p.Ala175Thr |