Linked Data
dbSNP Id:
rs778631062
ExAC:
18:48603150 A / T
gnomAD v2:
18-48603150-A-T
gnomAD v4:
18-51076780-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51076780A>T , CM000680.2:g.51076780A>T | GRCh38 |
| NC_000018.9:g.48603150A>T , CM000680.1:g.48603150A>T | GRCh37 |
| NC_000018.8:g.46857148A>T | NCBI36 |
| NG_013013.2:g.113741A>T , LRG_318:g.113741A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1447+4A>T | ENSP00000465878.2:n.1447+4A>T | |
| ENST00000589076.6:c.1447+4A>T | ENSP00000466934.2:n.1447+4A>T | |
| ENST00000589941.2:c.1447+4A>T | ENSP00000465874.2:n.1447+4A>T | |
| ENST00000590061.2:c.1447+4A>T | ENSP00000464772.2:n.1447+4A>T | |
| ENST00000593223.2:c.1451A>T | ENSP00000466118.2:p.Lys484Met | |
| ENST00000611848.2:c.1447+4A>T | ENSP00000478613.2:n.1447+4A>T | |
| ENST00000684953.1:n.2823A>T | ||
| ENST00000685090.1:n.1902A>T | ||
| ENST00000685232.1:n.1555+4A>T | ||
| ENST00000688574.1:n.1555+4A>T | ||
| ENST00000691124.1:n.2933A>T | ||
| ENST00000342988.8:c.1447+4A>T MANE Select | ENSP00000341551.3:n.1447+4A>T | |
| ENST00000342988.7:c.1447+4A>T | ENSP00000341551.3:n.1447+4A>T | |
| ENST00000398417.6:c.1447+4A>T | ENSP00000381452.1:n.1447+4A>T | |
| ENST00000588745.5:c.1159+4A>T | ENSP00000464901.1:n.1159+4A>T | |
| ENST00000590499.1:n.505+4A>T | ||
| ENST00000591126.5:n.3448+4A>T | ||
| ENST00000592186.5:c.1094+4A>T | ENSP00000468611.1:n.1094+4A>T | |
| ENST00000593223.1:c.218A>T | ENSP00000466118.1:p.Lys73Met | |
| ENST00000611848.1:c.647+4A>T | ||
| NM_005359.5:c.1447+4A>T , LRG_318t1:c.1447+4A>T | NP_005350.1:n.1447+4A>T | |
| NM_005359.6:c.1447+4A>T MANE Select | NP_005350.1:n.1447+4A>T |