Linked Data
ClinVar Variation Id:
356681
dbSNP Id:
rs145658858
ExAC:
6:41130768 G / A
gnomAD v2:
6-41130768-G-A
gnomAD v3:
6-41163030-G-A
gnomAD v4:
6-41163030-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41163030G>A , CM000668.2:g.41163030G>A | GRCh38 |
| NC_000006.11:g.41130768G>A , CM000668.1:g.41130768G>A | GRCh37 |
| NC_000006.10:g.41238746G>A | NCBI36 |
| NG_011561.1:g.5155C>T , LRG_631:g.5155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.40+13C>T MANE Select | ENSP00000362205.3:n.40+13C>T | |
| ENST00000338469.3:c.40+13C>T | ENSP00000342651.4:n.40+13C>T | |
| ENST00000373113.7:c.40+13C>T | ENSP00000362205.3:n.40+13C>T | |
| ENST00000373122.8:c.40+13C>T | ENSP00000362214.4:n.40+13C>T | |
| NM_001271821.1:c.40+13C>T | NP_001258750.1:n.40+13C>T | |
| NM_018965.3:c.40+13C>T , LRG_631t1:c.40+13C>T | NP_061838.1:n.40+13C>T | |
| XM_006715116.2:c.130+13C>T | XP_006715179.1:n.130+13C>T | |
| XR_926795.1:n.222+7467G>A | ||
| XR_926796.1:n.214+7467G>A | ||
| XR_926797.1:n.188+7467G>A | ||
| XR_926795.2:n.517+7467G>A | ||
| XR_926797.2:n.232+7467G>A | ||
| NM_001271821.2:c.40+13C>T | NP_001258750.1:n.40+13C>T | |
| NM_018965.4:c.40+13C>T MANE Select | NP_061838.1:n.40+13C>T |