Linked Data
ClinVar Variation Id:
155872
ClinVar RCV Id:
RCV000143989
dbSNP Id:
rs12662670
gnomAD v2:
6-151918856-T-G
gnomAD v3:
6-151597721-T-G
gnomAD v4:
6-151597721-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151597721T>G , CM000668.2:g.151597721T>G | GRCh38 |
| NC_000006.11:g.151918856T>G , CM000668.1:g.151918856T>G | GRCh37 |
| NC_000006.10:g.151960549T>G | NCBI36 |
| NG_021198.1:g.108682T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1710+1144T>G MANE Select | ENSP00000239374.6:n.1710+1144T>G | |
| ENST00000239374.7:c.1710+1144T>G | ENSP00000239374.6:n.1710+1144T>G | |
| ENST00000537358.1:n.496+1144T>G | ||
| NM_025059.3:c.1710+1144T>G | NP_079335.2:n.1710+1144T>G | |
| XM_011536147.1:c.1728+1144T>G | XP_011534449.1:n.1728+1144T>G | |
| XM_011536148.1:c.1527+1144T>G | XP_011534450.1:n.1527+1144T>G | |
| XM_011536147.2:c.1728+1144T>G | XP_011534449.1:n.1728+1144T>G | |
| XM_011536148.2:c.1527+1144T>G | XP_011534450.1:n.1527+1144T>G | |
| NM_025059.4:c.1710+1144T>G MANE Select | NP_079335.2:n.1710+1144T>G |