Linked Data
ClinVar Variation Id:
12086
ClinVar RCV Id:
RCV000012867
dbSNP Id:
rs267606790
PubMed:
PMID:11529858
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113116822C>T , CM000675.2:g.113116822C>T | GRCh38 |
| NC_000013.10:g.113771136C>T , CM000675.1:g.113771136C>T | GRCh37 |
| NC_000013.9:g.112819137C>T | NCBI36 |
| NG_009262.1:g.16032C>T , LRG_554:g.16032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.562C>T MANE Select | ENSP00000329546.4:p.Gln188Ter | |
| ENST00000346342.7:c.562C>T | ENSP00000329546.3:p.Gln188Ter | |
| ENST00000375581.3:c.628C>T | ENSP00000364731.3:p.Gln210Ter | |
| ENST00000479674.1:n.754C>T | ||
| ENST00000541084.5:c.376C>T | ENSP00000442051.2:p.Gln126Ter | |
| NM_000131.4:c.628C>T , LRG_554t1:c.628C>T | NP_000122.1:p.Gln210Ter | |
| NM_001267554.1:c.376C>T | NP_001254483.1:p.Gln126Ter | |
| NM_019616.3:c.562C>T , LRG_554t2:c.562C>T | NP_062562.1:p.Gln188Ter | |
| NR_051961.1:n.649C>T | ||
| XM_006719963.2:c.421C>T | XP_006720026.1:p.Gln141Ter | |
| XM_011537474.1:c.670C>T | XP_011535776.1:p.Gln224Ter | |
| XM_011537475.1:c.484C>T | XP_011535777.1:p.Gln162Ter | |
| XM_011537476.1:c.322C>T | XP_011535778.1:p.Gln108Ter | |
| XM_011537477.1:c.631C>T | XP_011535779.1:p.Gln211Ter | |
| XM_006719963.3:c.466C>T | XP_006720026.2:p.Gln156Ter | |
| XM_011537474.2:c.715C>T | XP_011535776.2:p.Gln239Ter | |
| XM_011537475.2:c.529C>T | XP_011535777.2:p.Gln177Ter | |
| XM_011537476.2:c.322C>T | XP_011535778.1:p.Gln108Ter | |
| NM_019616.4:c.562C>T MANE Select | NP_062562.1:p.Gln188Ter | |
| NR_051961.2:n.646C>T | ||
| NM_001267554.2:c.376C>T | NP_001254483.1:p.Gln126Ter |