Linked Data
ClinVar Variation Id:
17790
ClinVar RCV Id:
RCV000019368
dbSNP Id:
rs121912731
PubMed:
PMID:10080178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110292122C>T , CM000674.2:g.110292122C>T | GRCh38 |
| NC_000012.11:g.110729927C>T , CM000674.1:g.110729927C>T | GRCh37 |
| NC_000012.10:g.109214310C>T | NCBI36 |
| NG_007097.2:g.15496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552636.2:c.-54C>T | ENSP00000447406.2:n.-54C>T | |
| ENST00000539276.7:c.322C>T MANE Select | ENSP00000440045.2:p.Gln108Ter | |
| ENST00000308664.10:c.322C>T | ENSP00000311186.6:p.Gln108Ter | |
| ENST00000377685.9:c.*162C>T | ENSP00000366913.4:n.*162C>T | |
| ENST00000539276.6:c.322C>T | ENSP00000440045.2:p.Gln108Ter | |
| ENST00000548169.2:c.74C>T | ||
| ENST00000552636.1:c.21C>T | ENSP00000447406.1:p.Gly7= | |
| NM_001681.3:c.322C>T | NP_001672.1:p.Gln108Ter | |
| NM_170665.3:c.322C>T | NP_733765.1:p.Gln108Ter | |
| XM_005253888.1:c.322C>T | XP_005253945.1:p.Gln108Ter | |
| XM_011538402.1:c.322C>T | XP_011536704.1:p.Gln108Ter | |
| XM_011538403.1:c.322C>T | XP_011536705.1:p.Gln108Ter | |
| XR_243009.1:n.328C>T | ||
| XM_005253888.3:c.322C>T | XP_005253945.1:p.Gln108Ter | |
| XM_011538402.3:c.322C>T | XP_011536704.1:p.Gln108Ter | |
| XR_002957329.1:n.328C>T | ||
| XR_243009.3:n.328C>T | ||
| NM_170665.4:c.322C>T MANE Select | NP_733765.1:p.Gln108Ter | |
| NM_001681.4:c.322C>T | NP_001672.1:p.Gln108Ter |