Linked Data
ClinVar Variation Id:
130340
dbSNP Id:
rs2243540
ExAC:
10:73104056 A / G
gnomAD v2:
10-73104056-A-G
gnomAD v3:
10-71344299-A-G
gnomAD v4:
10-71344299-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71344299A>G , CM000672.2:g.71344299A>G | GRCh38 |
| NC_000010.10:g.73104056A>G , CM000672.1:g.73104056A>G | GRCh37 |
| NC_000010.9:g.72774062A>G | NCBI36 |
| NG_017066.1:g.30047A>G | |
| NG_017066.2:g.30041A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697843.1:n.829+8A>G | ||
| ENST00000373189.6:c.383+8A>G MANE Select | ENSP00000362285.5:n.383+8A>G | |
| ENST00000479577.2:c.149+8A>G | ENSP00000493995.1:n.149+8A>G | |
| ENST00000642198.1:c.67-7263A>G | ENSP00000494827.1:n.67-7263A>G | |
| ENST00000642772.1:c.301-11782A>G | ENSP00000495041.1:n.301-11782A>G | |
| ENST00000643042.1:c.232-11782A>G | ENSP00000496674.1:n.232-11782A>G | |
| ENST00000643619.1:c.149+8A>G | ENSP00000494378.1:n.149+8A>G | |
| ENST00000643752.1:c.383+8A>G | ENSP00000495000.1:n.383+8A>G | |
| ENST00000644088.1:c.301-11782A>G | ENSP00000494066.1:n.301-11782A>G | |
| ENST00000644591.1:c.301-7263A>G | ENSP00000496664.1:n.301-7263A>G | |
| ENST00000644895.1:c.301-7263A>G | ENSP00000493872.1:n.301-7263A>G | |
| ENST00000645345.1:c.301-7263A>G | ENSP00000495859.1:n.301-7263A>G | |
| ENST00000647524.1:c.383+8A>G | ENSP00000495077.1:n.383+8A>G | |
| ENST00000373189.5:c.383+8A>G | ENSP00000362285.5:n.383+8A>G | |
| NM_001174098.1:c.383+8A>G | NP_001167569.1:n.383+8A>G | |
| NM_018344.5:c.383+8A>G | NP_060814.4:n.383+8A>G | |
| NR_033413.1:n.358-7263A>G | ||
| NR_033414.1:n.358-11782A>G | ||
| XM_006717910.2:c.149+8A>G | XP_006717973.1:n.149+8A>G | |
| XR_946051.1:n.626-2918T>C | ||
| NM_001363518.1:c.149+8A>G | NP_001350447.1:n.149+8A>G | |
| XM_017016377.2:c.-55-7263A>G | XP_016871866.1:n.-55-7263A>G | |
| XM_017016378.2:c.-8-11782A>G | XP_016871867.1:n.-8-11782A>G | |
| XR_001747496.1:n.1552-2918T>C | ||
| XR_946051.2:n.1552-2918T>C | ||
| NM_018344.6:c.383+8A>G MANE Select | NP_060814.4:n.383+8A>G | |
| NM_001174098.2:c.383+8A>G | NP_001167569.1:n.383+8A>G | |
| NM_001363518.2:c.149+8A>G | NP_001350447.1:n.149+8A>G | |
| NR_033413.2:n.352-7263A>G | ||
| NR_033414.2:n.352-11782A>G |