Linked Data
ClinVar Variation Id:
1709503
dbSNP Id:
rs13447336
ExAC:
18:58038829 C / T
gnomAD v2:
18-58038829-C-T
gnomAD v3:
18-60371596-C-T
gnomAD v4:
18-60371596-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371596C>T , CM000680.2:g.60371596C>T | GRCh38 |
| NC_000018.9:g.58038829C>T , CM000680.1:g.58038829C>T | GRCh37 |
| NC_000018.8:g.56189809C>T | NCBI36 |
| NG_016441.1:g.6173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.754G>A MANE Select | ENSP00000299766.3:p.Gly252Ser | |
| ENST00000299766.4:c.754G>A | ENSP00000299766.3:p.Gly252Ser | |
| NM_005912.2:c.754G>A | NP_005903.2:p.Gly252Ser | |
| NM_005912.3:c.754G>A MANE Select | NP_005903.2:p.Gly252Ser |