Linked Data
ClinVar Variation Id:
209980
dbSNP Id:
rs146262009
ExAC:
7:99703901 C / T
gnomAD v2:
7-99703901-C-T
gnomAD v3:
7-100106278-C-T
gnomAD v4:
7-100106278-C-T
COSMIC:
COSM238807
PubMed:
PMID:24700674
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100106278C>T , CM000669.2:g.100106278C>T | GRCh38 |
| NC_000007.13:g.99703901C>T , CM000669.1:g.99703901C>T | GRCh37 |
| NC_000007.12:g.99541837C>T | NCBI36 |
| NG_016312.1:g.9772C>T | |
| NG_029454.1:g.18581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.1012C>T | ENSP00000393723.2:p.Arg338Ter | |
| ENST00000495154.2:n.1271C>T | ||
| ENST00000713591.1:c.1012C>T | ENSP00000518888.1:p.Arg338Ter | |
| ENST00000359593.9:c.1012C>T MANE Select | ENSP00000352603.4:p.Arg338Ter | |
| ENST00000359593.8:c.1012C>T | ENSP00000352603.4:p.Arg338Ter | |
| ENST00000416938.5:c.901C>T | ||
| ENST00000421755.5:c.1012C>T | ENSP00000412185.1:p.Arg338Ter | |
| ENST00000422582.5:c.628C>T | ENSP00000406676.1:p.Arg210Ter | |
| ENST00000429084.5:c.1033C>T | ENSP00000403663.1:p.Arg345Ter | |
| ENST00000438383.5:c.808C>T | ENSP00000401613.1:p.Arg270Ter | |
| ENST00000445208.5:c.*621C>T | ENSP00000400598.1:n.*621C>T | |
| ENST00000445295.1:c.189C>T | ||
| ENST00000446007.5:c.*234C>T | ENSP00000396928.1:n.*234C>T | |
| ENST00000450807.5:c.268C>T | ENSP00000391585.1:p.Arg90Ter | |
| ENST00000489387.1:n.302C>T | ||
| NM_004722.3:c.1012C>T | NP_004713.2:p.Arg338Ter | |
| XM_005250689.3:c.1033C>T | XP_005250746.1:p.Arg345Ter | |
| XM_005250690.3:c.808C>T | XP_005250747.1:p.Arg270Ter | |
| XM_006716175.2:c.1033C>T | XP_006716238.1:p.Arg345Ter | |
| XM_011516685.1:c.1033C>T | XP_011514987.1:p.Arg345Ter | |
| XM_011516686.1:c.628C>T | XP_011514988.1:p.Arg210Ter | |
| XM_011516687.1:c.337C>T | XP_011514989.1:p.Arg113Ter | |
| NM_001363671.1:c.1033C>T | NP_001350600.1:p.Arg345Ter | |
| XM_005250689.4:c.1033C>T | XP_005250746.1:p.Arg345Ter | |
| XM_005250690.4:c.808C>T | XP_005250747.1:p.Arg270Ter | |
| XM_006716175.4:c.1033C>T | XP_006716238.1:p.Arg345Ter | |
| XM_017012790.2:c.628C>T | XP_016868279.1:p.Arg210Ter | |
| XM_017012791.2:c.337C>T | XP_016868280.1:p.Arg113Ter | |
| XM_024446995.1:c.1012C>T | XP_024302763.1:p.Arg338Ter | |
| XM_024446996.1:c.337C>T | XP_024302764.1:p.Arg113Ter | |
| NM_004722.4:c.1012C>T MANE Select | NP_004713.2:p.Arg338Ter | |
| NM_001363671.2:c.1033C>T | NP_001350600.1:p.Arg345Ter |