Linked Data
dbSNP Id:
rs1276208853
gnomAD v2:
5-131724616-C-T
gnomAD v4:
5-132388924-C-T
PubMed:
PMID:20574985
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132388924C>T , CM000667.2:g.132388924C>T | GRCh38 |
| NC_000005.9:g.131724616C>T , CM000667.1:g.131724616C>T | GRCh37 |
| NC_000005.8:g.131752515C>T | NCBI36 |
| NG_008982.1:g.24216C>T | |
| NG_008982.2:g.24221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.796C>T | ENSP00000388838.2:p.Gln266Ter | |
| ENST00000435065.7:c.1027C>T | ENSP00000402760.2:p.Gln343Ter | |
| ENST00000448810.6:c.955C>T | ENSP00000401860.2:p.Gln319Ter | |
| ENST00000685543.1:n.1096C>T | ||
| ENST00000686757.1:c.*119C>T | ENSP00000510721.1:n.*119C>T | |
| ENST00000687740.1:n.3640C>T | ||
| ENST00000688151.1:n.2265C>T | ||
| ENST00000689271.1:c.802C>T | ENSP00000510797.1:p.Gln268Ter | |
| ENST00000690900.1:c.*119C>T | ENSP00000510703.1:n.*119C>T | |
| ENST00000692212.1:n.899C>T | ||
| ENST00000692355.1:c.208C>T | ||
| ENST00000692413.1:c.937C>T | ENSP00000509374.1:p.Gln313Ter | |
| ENST00000692825.1:c.1023C>T | ENSP00000509447.1:n.1023C>T | |
| ENST00000693308.1:c.1003C>T | ENSP00000509770.1:p.Gln335Ter | |
| ENST00000693763.1:n.2115C>T | ||
| ENST00000245407.8:c.955C>T MANE Select | ENSP00000245407.3:p.Gln319Ter | |
| ENST00000245407.7:c.955C>T | ENSP00000245407.3:p.Gln319Ter | |
| ENST00000435065.6:c.1027C>T | ENSP00000402760.2:p.Gln343Ter | |
| ENST00000437841.6:c.*270C>T | ENSP00000400553.1:n.*270C>T | |
| ENST00000447841.5:c.14C>T | ||
| ENST00000448810.5:c.303C>T | ||
| ENST00000461013.5:n.8377C>T | ||
| ENST00000479605.5:n.58C>T | ||
| NM_001308122.1:c.1027C>T | NP_001295051.1:p.Gln343Ter | |
| NM_003060.3:c.955C>T | NP_003051.1:p.Gln319Ter | |
| XM_011543590.1:c.337C>T | XP_011541892.1:p.Gln113Ter | |
| XR_427718.1:n.1315C>T | ||
| XR_948290.1:n.1296C>T | ||
| XR_948291.1:n.1309C>T | ||
| XM_011543590.2:c.337C>T | XP_011541892.1:p.Gln113Ter | |
| XM_017009778.2:c.427C>T | XP_016865267.1:p.Gln143Ter | |
| XR_001742215.1:n.1296C>T | ||
| XR_001742216.1:n.1315C>T | ||
| XR_427718.2:n.1315C>T | ||
| XR_948290.2:n.1296C>T | ||
| XR_948291.2:n.1309C>T | ||
| NM_003060.4:c.955C>T MANE Select | NP_003051.1:p.Gln319Ter | |
| NM_001308122.2:c.1027C>T | NP_001295051.1:p.Gln343Ter |