Linked Data
ClinVar Variation Id:
191077
dbSNP Id:
rs141387386
gnomAD v2:
17-39975704-G-T
gnomAD v3:
17-41819452-G-T
gnomAD v4:
17-41819452-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41819452G>T , CM000679.2:g.41819452G>T | GRCh38 |
| NC_000017.10:g.39975704G>T , CM000679.1:g.39975704G>T | GRCh37 |
| NC_000017.9:g.37229230G>T | NCBI36 |
| NG_015860.1:g.11743G>T , LRG_12:g.11743G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706683.1:c.728-817G>T | ENSP00000516497.1:n.728-817G>T | |
| ENST00000321562.9:c.917+53G>T MANE Select | ENSP00000317232.4:n.917+53G>T | |
| ENST00000321562.8:c.917+53G>T | ENSP00000317232.4:n.917+53G>T | |
| ENST00000455106.1:c.145+53G>T | ||
| ENST00000487489.1:n.530+53G>T | ||
| ENST00000489591.5:c.*327+53G>T | ENSP00000466352.1:n.*327+53G>T | |
| NM_021939.3:c.917+53G>T , LRG_12t1:c.917+53G>T | NP_068758.3:n.917+53G>T | |
| XM_011525099.1:c.917+53G>T | XP_011523401.1:n.917+53G>T | |
| XM_011525100.1:c.644+53G>T | XP_011523402.1:n.644+53G>T | |
| XM_011525099.3:c.917+53G>T | XP_011523401.1:n.917+53G>T | |
| XM_011525100.2:c.644+53G>T | XP_011523402.1:n.644+53G>T | |
| NM_021939.4:c.917+53G>T MANE Select | NP_068758.3:n.917+53G>T |