Linked Data
ClinVar Variation Id:
1177875
ClinVar RCV Id:
RCV001534042
dbSNP Id:
rs72648031
gnomAD v2:
12-110029279-C-A
gnomAD v3:
12-109591474-C-A
gnomAD v4:
12-109591474-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591474C>A , CM000674.2:g.109591474C>A | GRCh38 |
| NC_000012.11:g.110029279C>A , CM000674.1:g.110029279C>A | GRCh37 |
| NC_000012.10:g.108513662C>A | NCBI36 |
| NG_007702.1:g.22780C>A , LRG_156:g.22780C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.42+117C>A | ENSP00000439134.1:n.42+117C>A | |
| ENST00000546277.6:c.885+117C>A | ENSP00000438153.2:n.885+117C>A | |
| ENST00000636529.2:n.524+117C>A | ||
| ENST00000697195.1:c.*649+117C>A | ENSP00000513181.1:n.*649+117C>A | |
| ENST00000697196.1:c.*58+117C>A | ENSP00000513182.1:n.*58+117C>A | |
| ENST00000697197.1:n.2914+117C>A | ||
| ENST00000228510.8:c.885+117C>A MANE Select | ENSP00000228510.3:n.885+117C>A | |
| ENST00000636529.1:c.510+117C>A | ||
| ENST00000636996.1:c.733+117C>A | ||
| ENST00000228510.7:c.885+117C>A | ENSP00000228510.3:n.885+117C>A | |
| ENST00000392727.7:c.729+117C>A | ENSP00000376487.3:n.729+117C>A | |
| ENST00000447878.6:c.*332+117C>A | ENSP00000415555.2:n.*332+117C>A | |
| ENST00000537237.5:c.*558+117C>A | ENSP00000445382.1:n.*558+117C>A | |
| ENST00000539575.4:c.885+117C>A | ENSP00000443551.2:n.885+117C>A | |
| ENST00000539696.5:c.42+117C>A | ENSP00000439134.1:n.42+117C>A | |
| ENST00000540353.1:n.3118+117C>A | ||
| ENST00000625889.2:c.729+117C>A | ENSP00000486846.1:n.729+117C>A | |
| ENST00000629016.2:c.*332+117C>A | ENSP00000486804.1:n.*332+117C>A | |
| NM_000431.3:c.885+117C>A | NP_000422.1:n.885+117C>A | |
| NM_001114185.2:c.885+117C>A | NP_001107657.1:n.885+117C>A | |
| NM_001301182.1:c.729+117C>A | NP_001288111.1:n.729+117C>A | |
| XM_011538372.1:c.885+117C>A | XP_011536674.1:n.885+117C>A | |
| XM_017019313.2:c.729+117C>A | XP_016874802.1:n.729+117C>A | |
| XM_017019314.1:c.885+117C>A | XP_016874803.1:n.885+117C>A | |
| XM_024448982.1:c.1002C>A | XP_024304750.1:p.Asp334Glu | |
| NM_000431.4:c.885+117C>A MANE Select | NP_000422.1:n.885+117C>A | |
| NM_001114185.3:c.885+117C>A | NP_001107657.1:n.885+117C>A | |
| NM_001301182.2:c.729+117C>A | NP_001288111.1:n.729+117C>A |