Linked Data
dbSNP Id:
rs1048165207
gnomAD v2:
18-48604931-C-T
gnomAD v3:
18-51078561-C-T
gnomAD v4:
18-51078561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078561C>T , CM000680.2:g.51078561C>T | GRCh38 |
| NC_000018.9:g.48604931C>T , CM000680.1:g.48604931C>T | GRCh37 |
| NC_000018.8:g.46858929C>T | NCBI36 |
| NG_013013.2:g.115522C>T , LRG_318:g.115522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.*94C>T | ENSP00000465878.2:n.*94C>T | |
| ENST00000589076.6:c.*94C>T | ENSP00000466934.2:n.*94C>T | |
| ENST00000589941.2:c.*94C>T | ENSP00000465874.2:n.*94C>T | |
| ENST00000590061.2:c.*94C>T | ENSP00000464772.2:n.*94C>T | |
| ENST00000593223.2:c.*1750C>T | ENSP00000466118.2:n.*1750C>T | |
| ENST00000611848.2:c.*405C>T | ENSP00000478613.2:n.*405C>T | |
| ENST00000684953.1:n.3768C>T | ||
| ENST00000685090.1:n.3683C>T | ||
| ENST00000685232.1:n.1974C>T | ||
| ENST00000688574.1:n.1861C>T | ||
| ENST00000691124.1:n.4714C>T | ||
| ENST00000342988.8:c.*94C>T MANE Select | ENSP00000341551.3:n.*94C>T | |
| ENST00000342988.7:c.*94C>T | ENSP00000341551.3:n.*94C>T | |
| ENST00000398417.6:c.*94C>T | ENSP00000381452.1:n.*94C>T | |
| ENST00000586253.1:n.475C>T | ||
| ENST00000591126.5:n.3754C>T | ||
| ENST00000611848.1:c.1066C>T | ||
| NM_005359.5:c.*94C>T , LRG_318t1:c.*94C>T | NP_005350.1:n.*94C>T | |
| NM_005359.6:c.*94C>T MANE Select | NP_005350.1:n.*94C>T |