Linked Data
ClinVar Variation Id:
2846
ClinVar RCV Id:
RCV000002980
dbSNP Id:
rs120074148
ExAC:
11:108005967 C / G
gnomAD v2:
11-108005967-C-G
gnomAD v3:
11-108135240-C-G
gnomAD v4:
11-108135240-C-G
PubMed:
PMID:11914035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108135240C>G , CM000673.2:g.108135240C>G | GRCh38 |
| NC_000011.9:g.108005967C>G , CM000673.1:g.108005967C>G | GRCh37 |
| NC_000011.8:g.107511177C>G | NCBI36 |
| NG_009888.1:g.18710C>G | |
| NG_009888.2:g.23536C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265838.9:c.433C>G MANE Select | ENSP00000265838.4:p.Gln145Glu | |
| ENST00000671707.1:n.528C>G | ||
| ENST00000672008.1:c.314+944C>G | ENSP00000500499.1:n.314+944C>G | |
| ENST00000672031.1:c.433C>G | ENSP00000500463.1:p.Gln145Glu | |
| ENST00000672284.1:c.163C>G | ENSP00000500444.1:p.Gln55Glu | |
| ENST00000672354.1:c.433C>G | ENSP00000500490.1:p.Gln145Glu | |
| ENST00000672367.1:c.73-3658C>G | ENSP00000500209.1:n.73-3658C>G | |
| ENST00000672580.1:c.433C>G | ENSP00000500366.1:p.Gln145Glu | |
| ENST00000672907.1:c.120+3286C>G | ENSP00000500928.1:n.120+3286C>G | |
| ENST00000673000.1:n.521C>G | ||
| ENST00000673531.1:c.163C>G | ENSP00000500163.1:p.Gln55Glu | |
| ENST00000265838.8:c.433C>G | ENSP00000265838.4:p.Gln145Glu | |
| ENST00000299355.10:c.433C>G | ENSP00000299355.6:p.Gln145Glu | |
| ENST00000527942.5:c.163C>G | ||
| ENST00000528370.1:c.239C>G | ||
| ENST00000531813.5:c.334+924C>G | ENSP00000435965.1:n.334+924C>G | |
| NM_000019.3:c.433C>G | NP_000010.1:p.Gln145Glu | |
| XM_006718834.2:c.163C>G | XP_006718897.1:p.Gln55Glu | |
| XM_006718835.2:c.163C>G | XP_006718898.1:p.Gln55Glu | |
| XM_006718835.3:c.163C>G | XP_006718898.1:p.Gln55Glu | |
| XM_017017681.1:c.163C>G | XP_016873170.1:p.Gln55Glu | |
| XM_017017682.2:c.57+924C>G | XP_016873171.1:n.57+924C>G | |
| XM_017017683.2:c.57+924C>G | XP_016873172.1:n.57+924C>G | |
| XM_024448511.1:c.163C>G | XP_024304279.1:p.Gln55Glu | |
| XM_024448512.1:c.163C>G | XP_024304280.1:p.Gln55Glu | |
| XM_024448513.1:c.163C>G | XP_024304281.1:p.Gln55Glu | |
| XM_024448514.1:c.163C>G | XP_024304282.1:p.Gln55Glu | |
| XM_024448515.1:c.163C>G | XP_024304283.1:p.Gln55Glu | |
| NM_000019.4:c.433C>G MANE Select | NP_000010.1:p.Gln145Glu | |
| NM_001386677.1:c.433C>G | NP_001373606.1:p.Gln145Glu | |
| NM_001386678.1:c.120+3286C>G | NP_001373607.1:n.120+3286C>G | |
| NM_001386679.1:c.136C>G | NP_001373608.1:p.Gln46Glu | |
| NM_001386681.1:c.163C>G | NP_001373610.1:p.Gln55Glu | |
| NM_001386682.1:c.163C>G | NP_001373611.1:p.Gln55Glu | |
| NM_001386685.1:c.163C>G | NP_001373614.1:p.Gln55Glu | |
| NM_001386686.1:c.163C>G | NP_001373615.1:p.Gln55Glu | |
| NM_001386687.1:c.163C>G | NP_001373616.1:p.Gln55Glu | |
| NM_001386688.1:c.163C>G | NP_001373617.1:p.Gln55Glu | |
| NM_001386689.1:c.163C>G | NP_001373618.1:p.Gln55Glu | |
| NM_001386690.1:c.163C>G | NP_001373619.1:p.Gln55Glu | |
| NM_001386691.1:c.163C>G | NP_001373620.1:p.Gln55Glu | |
| NR_170162.1:n.473C>G | ||
| NR_170163.1:n.468+924C>G |