Linked Data
ClinVar Variation Id:
161675
ClinVar RCV Id:
RCV000149211
dbSNP Id:
rs193920889
gnomAD v2:
6-138726304-A-G
gnomAD v4:
6-138405167-A-G
COSMIC:
COSM1179947
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138405167A>G , CM000668.2:g.138405167A>G | GRCh38 |
| NC_000006.11:g.138726304A>G , CM000668.1:g.138726304A>G | GRCh37 |
| NC_000006.10:g.138767997A>G | NCBI36 |
| NG_050594.1:g.5969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607197.6:c.125A>G MANE Select | ENSP00000475750.1:p.His42Arg | |
| ENST00000367697.7:c.125A>G | ENSP00000356670.3:p.His42Arg | |
| ENST00000448741.5:c.158A>G | ENSP00000392101.1:p.His53Arg | |
| ENST00000607197.5:c.125A>G | ENSP00000475750.1:p.His42Arg | |
| NM_014320.2:c.125A>G | NP_055135.1:p.His42Arg | |
| XR_942368.1:n.397A>G | ||
| NM_001326380.1:c.158A>G | NP_001313309.1:p.His53Arg | |
| NM_001326381.1:c.125A>G | NP_001313310.1:p.His42Arg | |
| NM_014320.3:c.125A>G MANE Select | NP_055135.1:p.His42Arg | |
| NM_001326381.2:c.125A>G | NP_001313310.1:p.His42Arg | |
| NM_001326380.2:c.158A>G | NP_001313309.1:p.His53Arg |