Linked Data
ClinVar Variation Id:
492862
dbSNP Id:
rs187152753
ExAC:
18:58038826 C / T
gnomAD v2:
18-58038826-C-T
gnomAD v3:
18-60371593-C-T
gnomAD v4:
18-60371593-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371593C>T , CM000680.2:g.60371593C>T | GRCh38 |
| NC_000018.9:g.58038826C>T , CM000680.1:g.58038826C>T | GRCh37 |
| NC_000018.8:g.56189806C>T | NCBI36 |
| NG_016441.1:g.6176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.757G>A MANE Select | ENSP00000299766.3:p.Val253Ile | |
| ENST00000299766.4:c.757G>A | ENSP00000299766.3:p.Val253Ile | |
| NM_005912.2:c.757G>A | NP_005903.2:p.Val253Ile | |
| NM_005912.3:c.757G>A MANE Select | NP_005903.2:p.Val253Ile |