Linked Data
ClinVar Variation Id:
429587
dbSNP Id:
rs759998394
ExAC:
5:151271917 C / T
gnomAD v2:
5-151271917-C-T
gnomAD v4:
5-151892356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151892356C>T , CM000667.2:g.151892356C>T | GRCh38 |
| NC_000005.9:g.151271917C>T , CM000667.1:g.151271917C>T | GRCh37 |
| NC_000005.8:g.151252110C>T | NCBI36 |
| NG_011764.1:g.37481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.139G>A MANE Select | ENSP00000274576.5:p.Gly47Arg | |
| ENST00000274576.8:c.139G>A | ENSP00000274576.4:p.Gly47Arg | |
| ENST00000455880.2:c.139G>A | ENSP00000411593.2:p.Gly47Arg | |
| ENST00000462581.6:c.57-5568G>A | ENSP00000430595.1:n.57-5568G>A | |
| ENST00000471351.2:n.422G>A | ||
| NM_000171.3:c.139G>A | NP_000162.2:p.Gly47Arg | |
| NM_001146040.1:c.139G>A | NP_001139512.1:p.Gly47Arg | |
| NM_001292000.1:c.-65-5568G>A | NP_001278929.1:n.-65-5568G>A | |
| XM_005268412.2:c.139G>A | XP_005268469.1:p.Gly47Arg | |
| XR_002956230.1:n.3260C>T | ||
| NM_000171.4:c.139G>A MANE Select | NP_000162.2:p.Gly47Arg | |
| NM_001146040.2:c.139G>A | NP_001139512.1:p.Gly47Arg | |
| NM_001292000.2:c.-65-5568G>A | NP_001278929.1:n.-65-5568G>A |