Linked Data
ClinVar Variation Id:
56725
dbSNP Id:
rs386834144
ExAC:
6:41127528 A / G
gnomAD v2:
6-41127528-A-G
gnomAD v4:
6-41159790-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41159790A>G , CM000668.2:g.41159790A>G | GRCh38 |
| NC_000006.11:g.41127528A>G , CM000668.1:g.41127528A>G | GRCh37 |
| NC_000006.10:g.41235506A>G | NCBI36 |
| NG_011561.1:g.8395T>C , LRG_631:g.8395T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.482+2T>C MANE Select | ENSP00000362205.3:n.482+2T>C | |
| ENST00000338469.3:c.482+2T>C | ENSP00000342651.4:n.482+2T>C | |
| ENST00000373113.7:c.482+2T>C | ENSP00000362205.3:n.482+2T>C | |
| ENST00000373122.8:c.482+2T>C | ENSP00000362214.4:n.482+2T>C | |
| NM_001271821.1:c.482+2T>C | NP_001258750.1:n.482+2T>C | |
| NM_018965.3:c.482+2T>C , LRG_631t1:c.482+2T>C | NP_061838.1:n.482+2T>C | |
| XM_006715116.2:c.221+2T>C | XP_006715179.1:n.221+2T>C | |
| XR_926795.1:n.222+4227A>G | ||
| XR_926796.1:n.214+4227A>G | ||
| XR_926797.1:n.188+4227A>G | ||
| XR_926795.2:n.517+4227A>G | ||
| XR_926797.2:n.232+4227A>G | ||
| NM_001271821.2:c.482+2T>C | NP_001258750.1:n.482+2T>C | |
| NM_018965.4:c.482+2T>C MANE Select | NP_061838.1:n.482+2T>C |