Linked Data
ClinVar Variation Id:
41898
dbSNP Id:
rs397514682
gnomAD v2:
2-234243717-G-T
gnomAD v4:
2-233335071-G-T
PubMed:
PMID:22665972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233335071G>T , CM000664.2:g.233335071G>T | GRCh38 |
| NC_000002.11:g.234243717G>T , CM000664.1:g.234243717G>T | GRCh37 |
| NC_000002.10:g.233908456G>T | NCBI36 |
| NG_009116.1:g.32409G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.916G>T MANE Select | ENSP00000386444.1:p.Glu306Ter | |
| ENST00000409110.5:c.916G>T | ENSP00000386444.1:p.Glu306Ter | |
| ENST00000412969.6:n.2136G>T | ||
| ENST00000469222.5:n.933G>T | ||
| ENST00000471884.5:n.2947G>T | ||
| ENST00000473771.1:n.356G>T | ||
| ENST00000476500.5:n.6215G>T | ||
| ENST00000483231.5:n.300G>T | ||
| NM_000541.4:c.916G>T | NP_000532.2:p.Glu306Ter | |
| XM_011511589.1:c.916G>T | XP_011509891.1:p.Glu306Ter | |
| XM_011511590.1:c.916G>T | XP_011509892.1:p.Glu306Ter | |
| XM_011511591.1:c.916G>T | XP_011509893.1:p.Glu306Ter | |
| XM_011511592.1:c.760G>T | XP_011509894.1:p.Glu254Ter | |
| XM_011511593.1:c.616G>T | XP_011509895.1:p.Glu206Ter | |
| XM_011511594.1:c.544G>T | XP_011509896.1:p.Glu182Ter | |
| XM_011511596.1:c.514G>T | XP_011509898.1:p.Glu172Ter | |
| XM_011511597.1:c.514G>T | XP_011509899.1:p.Glu172Ter | |
| XR_922978.1:n.1112G>T | ||
| XR_922979.1:n.1112G>T | ||
| XR_922980.1:n.1211G>T | ||
| XM_011511593.3:c.616G>T | XP_011509895.1:p.Glu206Ter | |
| XM_017004641.1:c.916G>T | XP_016860130.1:p.Glu306Ter | |
| XM_017004642.1:c.916G>T | XP_016860131.1:p.Glu306Ter | |
| XM_024453036.1:c.514G>T | XP_024308804.1:p.Glu172Ter | |
| XR_001738882.1:n.993G>T | ||
| XR_922980.2:n.1211G>T | ||
| NM_000541.5:c.916G>T MANE Select | NP_000532.2:p.Glu306Ter |