Linked Data
ClinVar Variation Id:
18000
dbSNP Id:
rs121912710
ExAC:
5:125887806 A / C
gnomAD v2:
5-125887806-A-C
gnomAD v4:
5-126552114-A-C
PubMed:
PMID:16491085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126552114A>C , CM000667.2:g.126552114A>C | GRCh38 |
| NC_000005.9:g.125887806A>C , CM000667.1:g.125887806A>C | GRCh37 |
| NC_000005.8:g.125915705A>C | NCBI36 |
| NG_008600.2:g.48277T>G | |
| NG_008600.3:g.48277T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.1224T>G MANE Select | ENSP00000387123.3:p.Tyr408Ter | |
| ENST00000458249.6:c.*1133T>G | ENSP00000403929.1:n.*1133T>G | |
| ENST00000497231.7:n.1651T>G | ||
| ENST00000503281.6:c.813T>G | ||
| ENST00000635851.1:c.1222T>G | ||
| ENST00000636062.1:n.1119T>G | ||
| ENST00000636225.1:c.*1168T>G | ENSP00000490797.1:n.*1168T>G | |
| ENST00000636286.1:n.942T>G | ||
| ENST00000636482.1:n.711T>G | ||
| ENST00000636743.1:c.1104T>G | ENSP00000489725.1:p.Tyr368Ter | |
| ENST00000636808.1:c.*1033T>G | ENSP00000490833.1:n.*1033T>G | |
| ENST00000636872.1:c.1384T>G | ENSP00000490919.1:n.1384T>G | |
| ENST00000636879.1:c.1269T>G | ENSP00000490811.1:p.Tyr423Ter | |
| ENST00000636886.1:c.1023T>G | ENSP00000490371.1:p.Tyr341Ter | |
| ENST00000637206.1:c.1044T>G | ENSP00000489895.1:p.Tyr348Ter | |
| ENST00000637272.1:c.1215T>G | ENSP00000489686.1:p.Tyr405Ter | |
| ENST00000637292.1:c.774-1821T>G | ||
| ENST00000637782.1:c.1224T>G | ENSP00000490024.1:p.Tyr408Ter | |
| ENST00000638008.1:c.*1068T>G | ENSP00000490400.1:n.*1068T>G | |
| ENST00000638010.1:n.1170T>G | ||
| ENST00000409134.7:c.1224T>G | ENSP00000387123.3:p.Tyr408Ter | |
| ENST00000447989.6:c.1113T>G | ENSP00000414132.2:p.Tyr371Ter | |
| ENST00000497231.6:n.1434T>G | ||
| ENST00000503281.5:c.813T>G | ||
| ENST00000553117.5:c.1032T>G | ENSP00000448593.1:p.Tyr344Ter | |
| NM_001182.4:c.1224T>G | NP_001173.2:p.Tyr408Ter | |
| NM_001201377.1:c.1140T>G | NP_001188306.1:p.Tyr380Ter | |
| NM_001202404.1:c.1113T>G | NP_001189333.1:p.Tyr371Ter | |
| XM_011543417.1:c.819T>G | XP_011541719.1:p.Tyr273Ter | |
| XM_011543417.2:c.819T>G | XP_011541719.1:p.Tyr273Ter | |
| NM_001182.5:c.1224T>G MANE Select | NP_001173.2:p.Tyr408Ter | |
| NM_001201377.2:c.1140T>G | NP_001188306.1:p.Tyr380Ter | |
| NM_001202404.2:c.1032T>G | NP_001189333.2:p.Tyr344Ter |