Linked Data
ClinVar Variation Id:
299639
ClinVar RCV Id:
RCV000397667
dbSNP Id:
rs7073224
gnomAD v2:
10-26223230-A-G
gnomAD v3:
10-25934301-A-G
gnomAD v4:
10-25934301-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.25934301A>G , CM000672.2:g.25934301A>G | GRCh38 |
| NC_000010.10:g.26223230A>G , CM000672.1:g.26223230A>G | GRCh37 |
| NC_000010.9:g.26263236A>G | NCBI36 |
| NG_011635.1:g.5229A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642197.1:n.73A>G | ||
| ENST00000642920.2:c.-132A>G MANE Select | ENSP00000495965.1:n.-132A>G | |
| ENST00000265944.9:c.-132A>G | ENSP00000265944.4:n.-132A>G | |
| ENST00000376302.5:c.-132A>G | ENSP00000365479.1:n.-132A>G | |
| NM_017433.4:c.-132A>G | NP_059129.3:n.-132A>G | |
| XM_011519500.1:c.-189A>G | XP_011517802.1:n.-189A>G | |
| XM_011519501.1:c.-45A>G | XP_011517803.1:n.-45A>G | |
| XM_011519502.1:c.-132A>G | XP_011517804.1:n.-132A>G | |
| XM_011519503.1:c.-132A>G | XP_011517805.1:n.-132A>G | |
| XM_011519504.1:c.-132A>G | XP_011517806.1:n.-132A>G | |
| XM_011519505.1:c.-132A>G | XP_011517807.1:n.-132A>G | |
| XM_011519506.1:c.-132A>G | XP_011517808.1:n.-132A>G | |
| XM_011519508.1:c.-132A>G | XP_011517810.1:n.-132A>G | |
| XM_011519509.1:c.-132A>G | XP_011517811.1:n.-132A>G | |
| XM_011519510.1:c.-132A>G | XP_011517812.1:n.-132A>G | |
| XM_011519511.1:c.-132A>G | XP_011517813.1:n.-132A>G | |
| XR_930492.1:n.73A>G | ||
| XR_930493.1:n.73A>G | ||
| XR_930494.1:n.73A>G | ||
| XM_011519500.2:c.-189A>G | XP_011517802.1:n.-189A>G | |
| XM_011519506.2:c.-132A>G | XP_011517808.1:n.-132A>G | |
| XM_011519508.2:c.-132A>G | XP_011517810.1:n.-132A>G | |
| XM_011519510.2:c.-132A>G | XP_011517812.1:n.-132A>G | |
| XM_011519511.2:c.-132A>G | XP_011517813.1:n.-132A>G | |
| XR_001747111.1:n.73A>G | ||
| NM_017433.5:c.-132A>G MANE Select | NP_059129.3:n.-132A>G | |
| NM_001368265.1:c.-132A>G | NP_001355194.1:n.-132A>G |