Linked Data
ClinVar Variation Id:
425563
ClinVar RCV Id:
RCV000488449
dbSNP Id:
rs1085307131
PubMed:
PMID:28127940
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139472926C>T , CM000666.2:g.139472926C>T | GRCh38 |
| NC_000004.11:g.140394080C>T , CM000666.1:g.140394080C>T | GRCh37 |
| NC_000004.10:g.140613530C>T | NCBI36 |
| NG_051587.1:g.24695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.490C>T MANE Select | ENSP00000306496.5:p.Gln164Ter | |
| ENST00000652268.1:c.634C>T | ENSP00000498778.1:p.Gln212Ter | |
| ENST00000305626.5:c.490C>T | ENSP00000306496.5:p.Gln164Ter | |
| NM_031296.1:c.490C>T | NP_112586.1:p.Gln164Ter | |
| XM_011532299.1:c.634C>T | XP_011530601.1:p.Gln212Ter | |
| NM_031296.2:c.490C>T | NP_112586.1:p.Gln164Ter | |
| NM_031296.3:c.490C>T MANE Select | NP_112586.1:p.Gln164Ter |