Linked Data
ClinVar Variation Id:
522944
dbSNP Id:
rs780030221
ExAC:
7:99702937 C / T
gnomAD v2:
7-99702937-C-T
gnomAD v4:
7-100105314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100105314C>T , CM000669.2:g.100105314C>T | GRCh38 |
| NC_000007.13:g.99702937C>T , CM000669.1:g.99702937C>T | GRCh37 |
| NC_000007.12:g.99540873C>T | NCBI36 |
| NG_016312.1:g.8808C>T | |
| NG_029454.1:g.19545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445295.2:c.802C>T | ENSP00000393723.2:p.Arg268Ter | |
| ENST00000495154.2:n.1061C>T | ||
| ENST00000713591.1:c.802C>T | ENSP00000518888.1:p.Arg268Ter | |
| ENST00000359593.9:c.802C>T MANE Select | ENSP00000352603.4:p.Arg268Ter | |
| ENST00000359593.8:c.802C>T | ENSP00000352603.4:p.Arg268Ter | |
| ENST00000416938.5:c.691C>T | ||
| ENST00000421755.5:c.802C>T | ENSP00000412185.1:p.Arg268Ter | |
| ENST00000422582.5:c.418C>T | ENSP00000406676.1:p.Arg140Ter | |
| ENST00000429084.5:c.823C>T | ENSP00000403663.1:p.Arg275Ter | |
| ENST00000438383.5:c.598C>T | ENSP00000401613.1:p.Arg200Ter | |
| ENST00000439416.5:c.670C>T | ENSP00000414286.1:p.Arg224Ter | |
| ENST00000445208.5:c.*411C>T | ENSP00000400598.1:n.*411C>T | |
| ENST00000446007.5:c.*24C>T | ENSP00000396928.1:n.*24C>T | |
| ENST00000450807.5:c.58C>T | ENSP00000391585.1:p.Arg20Ter | |
| ENST00000463195.5:n.809C>T | ||
| ENST00000479916.1:n.384C>T | ||
| NM_004722.3:c.802C>T | NP_004713.2:p.Arg268Ter | |
| XM_005250689.3:c.823C>T | XP_005250746.1:p.Arg275Ter | |
| XM_005250690.3:c.598C>T | XP_005250747.1:p.Arg200Ter | |
| XM_006716175.2:c.823C>T | XP_006716238.1:p.Arg275Ter | |
| XM_011516685.1:c.823C>T | XP_011514987.1:p.Arg275Ter | |
| XM_011516686.1:c.418C>T | XP_011514988.1:p.Arg140Ter | |
| XM_011516687.1:c.127C>T | XP_011514989.1:p.Arg43Ter | |
| NM_001363671.1:c.823C>T | NP_001350600.1:p.Arg275Ter | |
| XM_005250689.4:c.823C>T | XP_005250746.1:p.Arg275Ter | |
| XM_005250690.4:c.598C>T | XP_005250747.1:p.Arg200Ter | |
| XM_006716175.4:c.823C>T | XP_006716238.1:p.Arg275Ter | |
| XM_017012790.2:c.418C>T | XP_016868279.1:p.Arg140Ter | |
| XM_017012791.2:c.127C>T | XP_016868280.1:p.Arg43Ter | |
| XM_024446995.1:c.802C>T | XP_024302763.1:p.Arg268Ter | |
| XM_024446996.1:c.127C>T | XP_024302764.1:p.Arg43Ter | |
| NM_004722.4:c.802C>T MANE Select | NP_004713.2:p.Arg268Ter | |
| NM_001363671.2:c.823C>T | NP_001350600.1:p.Arg275Ter |