Linked Data
ClinVar Variation Id:
7335
ClinVar RCV Id:
RCV000007760
dbSNP Id:
rs121434449
ExAC:
8:21981240 G / A
gnomAD v2:
8-21981240-G-A
gnomAD v4:
8-22123727-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22123727G>A , CM000670.2:g.22123727G>A | GRCh38 |
| NC_000008.10:g.21981240G>A , CM000670.1:g.21981240G>A | GRCh37 |
| NC_000008.9:g.22037185G>A | NCBI36 |
| NG_008166.1:g.11791C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381418.9:c.1837C>T MANE Select | ENSP00000370826.4:p.Arg613Ter | |
| ENST00000680789.1:c.1837C>T | ENSP00000505181.1:p.Arg613Ter | |
| ENST00000312841.9:c.1837C>T | ENSP00000326765.8:p.Arg613Ter | |
| ENST00000381418.8:c.1837C>T | ENSP00000370826.4:p.Arg613Ter | |
| NM_005144.4:c.1837C>T | NP_005135.2:p.Arg613Ter | |
| NM_018411.4:c.1837C>T | NP_060881.2:p.Arg613Ter | |
| XM_005273569.1:c.1840C>T | XP_005273626.1:p.Arg614Ter | |
| XM_006716367.1:c.1840C>T | XP_006716430.1:p.Arg614Ter | |
| XM_005273569.2:c.1840C>T | XP_005273626.1:p.Arg614Ter | |
| XM_006716367.2:c.1840C>T | XP_006716430.1:p.Arg614Ter | |
| NM_005144.5:c.1837C>T MANE Select | NP_005135.2:p.Arg613Ter |