Linked Data
ClinVar Variation Id:
50230
ClinVar RCV Id:
RCV000043483
dbSNP Id:
rs587776958
PubMed:
PMID:22652534
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139454331A>C , CM000666.2:g.139454331A>C | GRCh38 |
| NC_000004.11:g.140375485A>C , CM000666.1:g.140375485A>C | GRCh37 |
| NC_000004.10:g.140594935A>C | NCBI36 |
| NG_051587.1:g.6100A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.136A>C MANE Select | ENSP00000306496.5:p.Lys46Gln | |
| ENST00000652268.1:c.280A>C | ENSP00000498778.1:p.Lys94Gln | |
| ENST00000305626.5:c.136A>C | ENSP00000306496.5:p.Lys46Gln | |
| NM_031296.1:c.136A>C | NP_112586.1:p.Lys46Gln | |
| XM_011532299.1:c.280A>C | XP_011530601.1:p.Lys94Gln | |
| NM_031296.2:c.136A>C | NP_112586.1:p.Lys46Gln | |
| NM_031296.3:c.136A>C MANE Select | NP_112586.1:p.Lys46Gln |