Linked Data
ClinVar Variation Id:
748680
dbSNP Id:
rs754207663
ExAC:
18:48573672 C / T
gnomAD v2:
18-48573672-C-T
gnomAD v3:
18-51047302-C-T
gnomAD v4:
18-51047302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51047302C>T , CM000680.2:g.51047302C>T | GRCh38 |
| NC_000018.9:g.48573672C>T , CM000680.1:g.48573672C>T | GRCh37 |
| NC_000018.8:g.46827670C>T | NCBI36 |
| NG_013013.2:g.84263C>T , LRG_318:g.84263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.249+7C>T | ENSP00000465878.2:n.249+7C>T | |
| ENST00000589076.6:c.249+7C>T | ENSP00000466934.2:n.249+7C>T | |
| ENST00000589941.2:c.249+7C>T | ENSP00000465874.2:n.249+7C>T | |
| ENST00000590061.2:c.249+7C>T | ENSP00000464772.2:n.249+7C>T | |
| ENST00000593223.2:c.249+7C>T | ENSP00000466118.2:n.249+7C>T | |
| ENST00000611848.2:c.249+7C>T | ENSP00000478613.2:n.249+7C>T | |
| ENST00000342988.8:c.249+7C>T MANE Select | ENSP00000341551.3:n.249+7C>T | |
| ENST00000342988.7:c.249+7C>T | ENSP00000341551.3:n.249+7C>T | |
| ENST00000398417.6:c.249+7C>T | ENSP00000381452.1:n.249+7C>T | |
| ENST00000588745.5:c.249+7C>T | ENSP00000464901.1:n.249+7C>T | |
| ENST00000588860.5:c.249+7C>T | ENSP00000465878.1:n.249+7C>T | |
| ENST00000589076.5:c.249+7C>T | ENSP00000466934.1:n.249+7C>T | |
| ENST00000589706.1:n.117+7C>T | ||
| ENST00000589941.1:c.249+7C>T | ENSP00000465874.1:n.249+7C>T | |
| ENST00000590061.1:c.249+7C>T | ENSP00000464772.1:n.249+7C>T | |
| ENST00000590722.2:c.*272+7C>T | ENSP00000465737.1:n.*272+7C>T | |
| ENST00000591914.5:c.249+7C>T | ENSP00000466941.1:n.249+7C>T | |
| ENST00000592186.5:c.249+7C>T | ENSP00000468611.1:n.249+7C>T | |
| ENST00000592911.5:n.28-1384C>T | ||
| NM_005359.5:c.249+7C>T , LRG_318t1:c.249+7C>T | NP_005350.1:n.249+7C>T | |
| NM_005359.6:c.249+7C>T MANE Select | NP_005350.1:n.249+7C>T |