Linked Data
ClinVar Variation Id:
488371
ClinVar RCV Id:
RCV000578198
dbSNP Id:
rs1436515577
PubMed:
PMID:29300383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60742357C>T , CM000670.2:g.60742357C>T | GRCh38 |
| NC_000008.10:g.61654916C>T , CM000670.1:g.61654916C>T | GRCh37 |
| NC_000008.9:g.61817470C>T | NCBI36 |
| NG_007009.1:g.68578C>T , LRG_176:g.68578C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695848.1:n.1438C>T | ||
| ENST00000695849.1:n.1438C>T | ||
| ENST00000695853.1:c.925C>T | ENSP00000512218.1:p.Gln309Ter | |
| ENST00000700671.1:c.925C>T | ENSP00000515139.1:p.Gln309Ter | |
| ENST00000423902.7:c.925C>T MANE Select | ENSP00000392028.1:p.Gln309Ter | |
| ENST00000423902.6:c.925C>T | ENSP00000392028.1:p.Gln309Ter | |
| ENST00000524602.5:c.925C>T | ENSP00000437061.1:p.Gln309Ter | |
| ENST00000525508.1:c.925C>T | ENSP00000436027.1:p.Gln309Ter | |
| ENST00000527825.1:c.32-463C>T | ||
| NM_001316690.1:c.925C>T | NP_001303619.1:p.Gln309Ter | |
| NM_017780.3:c.925C>T | NP_060250.2:p.Gln309Ter | |
| XM_011517553.1:c.925C>T | XP_011515855.1:p.Gln309Ter | |
| XM_011517554.1:c.925C>T | XP_011515856.1:p.Gln309Ter | |
| XM_011517555.1:c.925C>T | XP_011515857.1:p.Gln309Ter | |
| XM_011517556.1:c.925C>T | XP_011515858.1:p.Gln309Ter | |
| XM_011517560.1:c.925C>T | XP_011515862.1:p.Gln309Ter | |
| XM_011517553.2:c.925C>T | XP_011515855.1:p.Gln309Ter | |
| XM_011517554.3:c.925C>T | XP_011515856.1:p.Gln309Ter | |
| XM_011517555.2:c.925C>T | XP_011515857.1:p.Gln309Ter | |
| XM_011517560.2:c.925C>T | XP_011515862.1:p.Gln309Ter | |
| XM_017013612.1:c.925C>T | XP_016869101.1:p.Gln309Ter | |
| XM_017013613.1:c.925C>T | XP_016869102.1:p.Gln309Ter | |
| NM_017780.4:c.925C>T MANE Select | NP_060250.2:p.Gln309Ter |