Linked Data
ClinVar Variation Id:
140623
ClinVar RCV Id:
RCV001840044
dbSNP Id:
rs727503762
PubMed:
PMID:23104095
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.419439C>T , CM000682.2:g.419439C>T | GRCh38 |
| NC_000020.10:g.400083C>T , CM000682.1:g.400083C>T | GRCh37 |
| NC_000020.9:g.348083C>T | NCBI36 |
| NG_033233.1:g.16375C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697804.1:c.553C>T | ENSP00000513444.1:p.Gln185Ter | |
| ENST00000697805.1:c.604C>T | ENSP00000513446.1:p.Gln202Ter | |
| ENST00000356286.10:c.553C>T MANE Select | ENSP00000348632.6:p.Gln185Ter | |
| ENST00000640614.1:c.204C>T | ENSP00000491402.1:p.Gly68= | |
| ENST00000353660.7:c.427C>T | ENSP00000254960.5:p.Gln143Ter | |
| ENST00000356286.9:c.553C>T | ENSP00000348632.5:p.Gln185Ter | |
| ENST00000382181.2:c.204C>T | ENSP00000371616.2:p.Gly68= | |
| ENST00000382214.7:c.553C>T | ENSP00000371649.3:p.Gln185Ter | |
| ENST00000414880.1:c.651C>T | ||
| ENST00000415942.5:c.553C>T | ENSP00000405288.1:p.Gln185Ter | |
| NM_006462.4:c.427C>T | NP_006453.1:p.Gln143Ter | |
| NM_031229.2:c.553C>T | NP_112506.2:p.Gln185Ter | |
| XM_005260645.1:c.604C>T | XP_005260702.1:p.Gln202Ter | |
| XM_011529137.1:c.727C>T | XP_011527439.1:p.Gln243Ter | |
| XM_011529138.1:c.676C>T | XP_011527440.1:p.Gln226Ter | |
| XM_011529139.1:c.727C>T | XP_011527441.1:p.Gln243Ter | |
| XM_011529140.1:c.727C>T | XP_011527442.1:p.Gln243Ter | |
| XR_430267.1:n.1012C>T | ||
| XR_937029.1:n.1180C>T | ||
| NM_001323956.1:c.204C>T | NP_001310885.1:p.Gly68= | |
| NM_001323958.1:c.204C>T | NP_001310887.1:p.Gly68= | |
| NM_006462.5:c.427C>T | NP_006453.1:p.Gln143Ter | |
| NM_031229.3:c.553C>T | NP_112506.2:p.Gln185Ter | |
| NR_136659.1:n.1261C>T | ||
| XM_005260645.2:c.604C>T | XP_005260702.1:p.Gln202Ter | |
| XM_011529137.2:c.727C>T | XP_011527439.1:p.Gln243Ter | |
| XM_011529139.3:c.727C>T | XP_011527441.1:p.Gln243Ter | |
| XM_011529140.2:c.727C>T | XP_011527442.1:p.Gln243Ter | |
| XM_017027594.2:c.204C>T | XP_016883083.1:p.Gly68= | |
| XM_017027595.1:c.204C>T | XP_016883084.1:p.Gly68= | |
| XR_001754130.2:n.1186C>T | ||
| XR_001754131.1:n.1012C>T | ||
| XR_937029.3:n.1186C>T | ||
| NM_001323958.2:c.204C>T | NP_001310887.1:p.Gly68= | |
| NM_006462.6:c.427C>T | NP_006453.1:p.Gln143Ter | |
| NM_031229.4:c.553C>T MANE Select | NP_112506.2:p.Gln185Ter | |
| NR_136659.2:n.1012C>T | ||
| NM_001323956.2:c.204C>T | NP_001310885.1:p.Gly68= |