Linked Data
ClinVar Variation Id:
1190408
ClinVar RCV Id:
RCV001551116
dbSNP Id:
rs146471227
gnomAD v2:
8-31004710-A-G
gnomAD v3:
8-31147194-A-G
gnomAD v4:
8-31147194-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31147194A>G , CM000670.2:g.31147194A>G | GRCh38 |
| NC_000008.10:g.31004710A>G , CM000670.1:g.31004710A>G | GRCh37 |
| NC_000008.9:g.31124252A>G | NCBI36 |
| NG_008870.1:g.118933A>G , LRG_524:g.118933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3459+66A>G MANE Select | ENSP00000298139.5:n.3459+66A>G | |
| ENST00000650667.1:c.*3073+66A>G | ENSP00000498593.1:n.*3073+66A>G | |
| ENST00000298139.5:c.3459+66A>G | ENSP00000298139.5:n.3459+66A>G | |
| ENST00000521620.5:n.2092+66A>G | ||
| NM_000553.4:c.3459+66A>G , LRG_524t1:c.3459+66A>G | NP_000544.2:n.3459+66A>G | |
| XM_011544639.1:c.3378+66A>G | XP_011542941.1:n.3378+66A>G | |
| XM_011544640.1:c.1860+66A>G | XP_011542942.1:n.1860+66A>G | |
| XR_949470.1:n.3732+66A>G | ||
| XR_949471.1:n.3732+66A>G | ||
| XR_949472.1:n.3732+66A>G | ||
| XR_949643.1:n.614+1314T>C | ||
| NM_000553.5:c.3459+66A>G | NP_000544.2:n.3459+66A>G | |
| XM_011544639.3:c.3378+66A>G | XP_011542941.1:n.3378+66A>G | |
| XM_024447265.1:c.3249+66A>G | XP_024303033.1:n.3249+66A>G | |
| XR_949470.3:n.3760+66A>G | ||
| XR_949471.3:n.3760+66A>G | ||
| XR_949472.3:n.3760+66A>G | ||
| NM_000553.6:c.3459+66A>G MANE Select | NP_000544.2:n.3459+66A>G |