Linked Data
ClinVar Variation Id:
97605
ClinVar RCV Id:
RCV000083857
dbSNP Id:
rs104895346
gnomAD v2:
12-110024488-A-G
gnomAD v3:
12-109586683-A-G
gnomAD v4:
12-109586683-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109586683A>G , CM000674.2:g.109586683A>G | GRCh38 |
| NC_000012.11:g.110024488A>G , CM000674.1:g.110024488A>G | GRCh37 |
| NC_000012.10:g.108508871A>G | NCBI36 |
| NG_007702.1:g.17989A>G , LRG_156:g.17989A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-91-4163A>G | ENSP00000439134.1:n.-91-4163A>G | |
| ENST00000546277.6:c.632-71A>G | ENSP00000438153.2:n.632-71A>G | |
| ENST00000636529.2:n.183-71A>G | ||
| ENST00000697195.1:c.*396-71A>G | ENSP00000513181.1:n.*396-71A>G | |
| ENST00000697196.1:c.632-71A>G | ENSP00000513182.1:n.632-71A>G | |
| ENST00000228510.8:c.632-71A>G MANE Select | ENSP00000228510.3:n.632-71A>G | |
| ENST00000636529.1:c.169-71A>G | ||
| ENST00000636996.1:c.480-71A>G | ||
| ENST00000228510.7:c.632-71A>G | ENSP00000228510.3:n.632-71A>G | |
| ENST00000392727.7:c.476-71A>G | ENSP00000376487.3:n.476-71A>G | |
| ENST00000447878.6:c.*79-71A>G | ENSP00000415555.2:n.*79-71A>G | |
| ENST00000537237.5:c.*396-71A>G | ENSP00000445382.1:n.*396-71A>G | |
| ENST00000539575.4:c.632-71A>G | ENSP00000443551.2:n.632-71A>G | |
| ENST00000539696.5:c.-91-4163A>G | ENSP00000439134.1:n.-91-4163A>G | |
| ENST00000545516.1:n.177-71A>G | ||
| ENST00000545774.5:c.*79-71A>G | ENSP00000443978.1:n.*79-71A>G | |
| ENST00000625889.2:c.476-71A>G | ENSP00000486846.1:n.476-71A>G | |
| ENST00000629016.2:c.*79-71A>G | ENSP00000486804.1:n.*79-71A>G | |
| NM_000431.3:c.632-71A>G | NP_000422.1:n.632-71A>G | |
| NM_001114185.2:c.632-71A>G | NP_001107657.1:n.632-71A>G | |
| NM_001301182.1:c.476-71A>G | NP_001288111.1:n.476-71A>G | |
| XM_011538372.1:c.632-71A>G | XP_011536674.1:n.632-71A>G | |
| XM_017019313.2:c.476-71A>G | XP_016874802.1:n.476-71A>G | |
| XM_017019314.1:c.632-71A>G | XP_016874803.1:n.632-71A>G | |
| XM_024448982.1:c.632-71A>G | XP_024304750.1:n.632-71A>G | |
| NM_000431.4:c.632-71A>G MANE Select | NP_000422.1:n.632-71A>G | |
| NM_001114185.3:c.632-71A>G | NP_001107657.1:n.632-71A>G | |
| NM_001301182.2:c.476-71A>G | NP_001288111.1:n.476-71A>G |