Linked Data
ClinVar Variation Id:
541813
ClinVar RCV Id:
RCV000652142
dbSNP Id:
rs10045130
ExAC:
5:158747467 C / T
gnomAD v2:
5-158747467-C-T
gnomAD v3:
5-159320459-C-T
gnomAD v4:
5-159320459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320459C>T , CM000667.2:g.159320459C>T | GRCh38 |
| NC_000005.9:g.158747467C>T , CM000667.1:g.158747467C>T | GRCh37 |
| NC_000005.8:g.158680045C>T | NCBI36 |
| NG_009618.1:g.15015G>A , LRG_71:g.15015G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-87G>A | ENSP00000512849.1:n.-87G>A | |
| ENST00000696751.1:c.*39G>A | ENSP00000512850.1:n.*39G>A | |
| ENST00000231228.3:c.544G>A MANE Select | ENSP00000231228.2:p.Gly182Arg | |
| ENST00000231228.2:c.544G>A | ENSP00000231228.2:p.Gly182Arg | |
| NM_002187.2:c.544G>A , LRG_71t1:c.544G>A | NP_002178.2:p.Gly182Arg | |
| XR_001742945.1:n.10C>T | ||
| NM_002187.3:c.544G>A MANE Select | NP_002178.2:p.Gly182Arg |