Linked Data
ClinVar Variation Id:
189514
ClinVar RCV Id:
RCV000169900
dbSNP Id:
rs786204949
PubMed:
PMID:17097056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236718984G>T , CM000663.2:g.236718984G>T | GRCh38 |
| NC_000001.10:g.236882284G>T , CM000663.1:g.236882284G>T | GRCh37 |
| NC_000001.9:g.234948907G>T | NCBI36 |
| NG_009081.1:g.37515G>T | |
| NG_009081.2:g.59844G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542672.7:c.332G>T | ENSP00000443495.1:p.Gly111Val | |
| ENST00000492634.7:n.427G>T | ||
| ENST00000494762.2:n.81G>T | ||
| ENST00000682015.1:c.332G>T | ENSP00000506961.1:p.Gly111Val | |
| ENST00000682692.1:n.332G>T | ||
| ENST00000682966.1:n.331G>T | ||
| ENST00000683075.1:n.271G>T | ||
| ENST00000683111.1:c.275G>T | ENSP00000507913.1:p.Gly92Val | |
| ENST00000684050.1:n.367G>T | ||
| ENST00000684286.1:n.400G>T | ||
| ENST00000684502.1:n.367G>T | ||
| ENST00000366578.6:c.332G>T MANE Select | ENSP00000355537.4:p.Gly111Val | |
| ENST00000492634.6:n.427G>T | ||
| ENST00000542672.6:c.332G>T | ENSP00000443495.1:p.Gly111Val | |
| ENST00000651091.1:c.275G>T | ENSP00000498677.1:p.Gly92Val | |
| ENST00000651187.1:c.116G>T | ENSP00000498348.1:p.Gly39Val | |
| ENST00000651275.1:c.317G>T | ENSP00000498926.1:p.Gly106Val | |
| ENST00000651786.1:c.332G>T | ENSP00000498364.1:p.Gly111Val | |
| ENST00000652096.1:c.332G>T | ENSP00000498896.1:p.Gly111Val | |
| ENST00000366578.5:c.332G>T | ENSP00000355537.4:p.Gly111Val | |
| ENST00000492634.5:n.479G>T | ||
| ENST00000542672.5:c.332G>T | ENSP00000443495.1:p.Gly111Val | |
| ENST00000546208.5:c.-490G>T | ENSP00000438384.2:n.-490G>T | |
| NM_001103.3:c.332G>T | NP_001094.1:p.Gly111Val | |
| NM_001278343.1:c.332G>T | NP_001265272.1:p.Gly111Val | |
| NM_001278344.1:c.-490G>T | NP_001265273.1:n.-490G>T | |
| NM_001278343.2:c.332G>T | NP_001265272.1:p.Gly111Val | |
| NM_001103.4:c.332G>T MANE Select | NP_001094.1:p.Gly111Val | |
| NM_001278344.2:c.-490G>T | NP_001265273.1:n.-490G>T |