Linked Data
ClinVar Variation Id:
324779
dbSNP Id:
rs886053305
gnomAD v2:
17-66508680-C-A
gnomAD v3:
17-68512539-C-A
gnomAD v4:
17-68512539-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68512539C>A , CM000679.2:g.68512539C>A | GRCh38 |
| NC_000017.10:g.66508680C>A , CM000679.1:g.66508680C>A | GRCh37 |
| NC_000017.9:g.64020275C>A | NCBI36 |
| NG_007093.3:g.103917C>A , LRG_514:g.103917C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588188.7:c.-16C>A | ENSP00000468106.2:n.-16C>A | |
| ENST00000585427.6:c.-7+44C>A | ENSP00000464715.2:n.-7+44C>A | |
| ENST00000589017.6:c.-140+397C>A | ENSP00000465445.2:n.-140+397C>A | |
| ENST00000592800.6:c.-7+397C>A | ENSP00000466314.2:n.-7+397C>A | |
| ENST00000686019.1:n.104C>A | ||
| ENST00000691392.1:n.118C>A | ||
| ENST00000589228.6:c.-16C>A MANE Select | ENSP00000464977.2:n.-16C>A | |
| ENST00000358598.6:c.-7+397C>A | ENSP00000351410.1:n.-7+397C>A | |
| ENST00000392710.8:c.-16C>A | ENSP00000376474.4:n.-16C>A | |
| ENST00000392711.5:c.-47C>A | ENSP00000376475.1:n.-47C>A | |
| ENST00000536854.6:c.-149C>A | ENSP00000445625.1:n.-149C>A | |
| ENST00000585427.5:c.-7+44C>A | ENSP00000464715.1:n.-7+44C>A | |
| ENST00000585460.1:n.110C>A | ||
| ENST00000585608.5:c.-16C>A | ENSP00000466722.1:n.-16C>A | |
| ENST00000588702.5:c.-47C>A | ENSP00000464701.1:n.-47C>A | |
| ENST00000589017.5:c.-140+397C>A | ENSP00000465445.1:n.-140+397C>A | |
| ENST00000589228.5:c.-16C>A | ENSP00000464977.1:n.-16C>A | |
| ENST00000589309.5:c.-218C>A | ENSP00000467500.1:n.-218C>A | |
| ENST00000592194.1:n.125C>A | ||
| NM_001276289.1:c.-149C>A | NP_001263218.1:n.-149C>A | |
| NM_001278433.1:c.-6-2855C>A | NP_001265362.1:n.-6-2855C>A | |
| NM_002734.4:c.-16C>A , LRG_514t1:c.-16C>A | NP_002725.1:n.-16C>A | |
| NM_212471.2:c.-7+397C>A | NP_997636.1:n.-7+397C>A | |
| NM_212472.2:c.-47C>A , LRG_514t2:c.-47C>A | NP_997637.1:n.-47C>A | |
| XM_011524985.1:c.-140+397C>A | XP_011523287.1:n.-140+397C>A | |
| XM_011524985.3:c.-140+397C>A | XP_011523287.1:n.-140+397C>A | |
| NM_001369389.1:c.-140+397C>A | NP_001356318.1:n.-140+397C>A | |
| NM_002734.5:c.-16C>A MANE Select | NP_002725.1:n.-16C>A | |
| NM_001276289.2:c.-149C>A | NP_001263218.1:n.-149C>A | |
| NM_001278433.2:c.-6-2855C>A | NP_001265362.1:n.-6-2855C>A | |
| NM_212471.3:c.-7+397C>A | NP_997636.1:n.-7+397C>A |