Linked Data
ClinVar Variation Id:
334294
dbSNP Id:
rs759562755
ExAC:
2:217288414 G / A
gnomAD v2:
2-217288414-G-A
gnomAD v3:
2-216423691-G-A
gnomAD v4:
2-216423691-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216423691G>A , CM000664.2:g.216423691G>A | GRCh38 |
| NC_000002.11:g.217288414G>A , CM000664.1:g.217288414G>A | GRCh37 |
| NC_000002.10:g.216996659G>A | NCBI36 |
| NG_009771.1:g.16278G>A , LRG_108:g.16278G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425815.6:c.1147+8G>A | ENSP00000394410.2:n.1147+8G>A | |
| ENST00000430374.6:c.1147+8G>A | ENSP00000405077.2:n.1147+8G>A | |
| ENST00000444508.6:c.1147+8G>A | ENSP00000398969.2:n.1147+8G>A | |
| ENST00000697898.1:n.1508+8G>A | ||
| ENST00000697899.1:c.913+8G>A | ENSP00000513470.1:n.913+8G>A | |
| ENST00000697900.1:n.1423+8G>A | ||
| ENST00000697901.1:c.*5+8G>A | ENSP00000513471.1:n.*5+8G>A | |
| ENST00000697902.1:n.1379+8G>A | ||
| ENST00000697903.1:c.1147+8G>A | ENSP00000513472.1:n.1147+8G>A | |
| ENST00000697904.1:c.1147+8G>A | ENSP00000513473.1:n.1147+8G>A | |
| ENST00000697905.1:c.1147+8G>A | ENSP00000513474.1:n.1147+8G>A | |
| ENST00000697906.1:c.913+8G>A | ENSP00000513475.1:n.913+8G>A | |
| ENST00000697907.1:c.*5+8G>A | ENSP00000513476.1:n.*5+8G>A | |
| ENST00000357276.9:c.1147+8G>A MANE Select | ENSP00000349823.4:n.1147+8G>A | |
| ENST00000357276.8:c.1147+8G>A | ENSP00000349823.4:n.1147+8G>A | |
| ENST00000358207.9:c.1147+8G>A | ENSP00000350940.5:n.1147+8G>A | |
| ENST00000392128.6:c.739+8G>A | ENSP00000375974.2:n.739+8G>A | |
| ENST00000412913.1:c.307+8G>A | ENSP00000390248.1:n.307+8G>A | |
| ENST00000427645.5:c.793+3159G>A | ENSP00000392997.1:n.793+3159G>A | |
| NM_001127207.1:c.1147+8G>A | NP_001120679.1:n.1147+8G>A | |
| NM_014140.3:c.1147+8G>A , LRG_108t1:c.1147+8G>A | NP_054859.2:n.1147+8G>A | |
| XM_005246631.2:c.1147+8G>A | XP_005246688.1:n.1147+8G>A | |
| XM_005246632.1:c.1147+8G>A | XP_005246689.1:n.1147+8G>A | |
| XM_006712557.1:c.1147+8G>A | XP_006712620.1:n.1147+8G>A | |
| XM_005246632.2:c.1147+8G>A | XP_005246689.1:n.1147+8G>A | |
| XM_017004228.2:c.235+8G>A | XP_016859717.1:n.235+8G>A | |
| NM_001127207.2:c.1147+8G>A | NP_001120679.1:n.1147+8G>A | |
| NM_014140.4:c.1147+8G>A MANE Select | NP_054859.2:n.1147+8G>A |