Linked Data
ClinVar Variation Id:
30209
ClinVar RCV Id:
RCV001537624
dbSNP Id:
rs387906815
ExAC:
18:19751638 C / T
gnomAD v2:
18-19751638-C-T
gnomAD v3:
18-22171677-C-T
gnomAD v4:
18-22171677-C-T
PubMed:
PMID:20581743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22171677C>T , CM000680.2:g.22171677C>T | GRCh38 |
| NC_000018.9:g.19751638C>T , CM000680.1:g.19751638C>T | GRCh37 |
| NC_000018.8:g.18005636C>T | NCBI36 |
| NG_032677.1:g.7235C>T | |
| NG_032677.2:g.7241C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269216.10:c.533C>T MANE Select | ENSP00000269216.3:p.Ala178Val | |
| ENST00000269216.7:c.533C>T | ENSP00000269216.3:p.Ala178Val | |
| ENST00000581694.1:c.533C>T | ENSP00000462313.1:p.Ala178Val | |
| NM_005257.5:c.533C>T | NP_005248.2:p.Ala178Val | |
| NM_005257.6:c.533C>T MANE Select | NP_005248.2:p.Ala178Val |