Linked Data
ClinVar Variation Id:
183350
ClinVar RCV Id:
RCV000162182
dbSNP Id:
rs140630794
ExAC:
21:37769727 A / G
gnomAD v2:
21-37769727-A-G
gnomAD v3:
21-36397429-A-G
gnomAD v4:
21-36397429-A-G
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36397429A>G , CM000683.2:g.36397429A>G | GRCh38 |
| NC_000021.8:g.37769727A>G , CM000683.1:g.37769727A>G | GRCh37 |
| NC_000021.7:g.36691597A>G | NCBI36 |
| NG_046962.1:g.25373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314103.6:c.496A>G MANE Select | ENSP00000315700.4:p.Ile166Val | |
| ENST00000314103.5:c.496A>G | ENSP00000315700.4:p.Ile166Val | |
| ENST00000480486.1:n.573A>G | ||
| NM_005441.2:c.496A>G | NP_005432.1:p.Ile166Val | |
| XM_011529753.1:c.496A>G | XP_011528055.1:p.Ile166Val | |
| XM_011529754.1:c.496A>G | XP_011528056.1:p.Ile166Val | |
| XM_011529755.1:c.18-2092A>G | XP_011528057.1:n.18-2092A>G | |
| XM_011529755.2:c.18-2092A>G | XP_011528057.1:n.18-2092A>G | |
| XM_017028477.1:c.496A>G | XP_016883966.1:p.Ile166Val | |
| XM_017028478.1:c.496A>G | XP_016883967.1:p.Ile166Val | |
| NM_005441.3:c.496A>G MANE Select | NP_005432.1:p.Ile166Val |