Linked Data
ClinVar Variation Id:
437995
dbSNP Id:
rs541717028
ExAC:
2:112777074 C / T
gnomAD v2:
2-112777074-C-T
gnomAD v3:
2-112019497-C-T
gnomAD v4:
2-112019497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112019497C>T , CM000664.2:g.112019497C>T | GRCh38 |
| NC_000002.11:g.112777074C>T , CM000664.1:g.112777074C>T | GRCh37 |
| NC_000002.10:g.112493545C>T | NCBI36 |
| NG_011607.1:g.125884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.2164C>T MANE Select | ENSP00000295408.4:p.Arg722Ter | |
| ENST00000295408.8:c.2164C>T | ENSP00000295408.4:p.Arg722Ter | |
| ENST00000409780.5:c.1636C>T | ENSP00000387277.1:p.Arg546Ter | |
| ENST00000421804.6:c.2164C>T | ENSP00000389152.2:p.Arg722Ter | |
| ENST00000439966.5:c.*1637C>T | ENSP00000402129.1:n.*1637C>T | |
| ENST00000449344.2:c.85C>T | ENSP00000412660.2:p.Arg29Ter | |
| ENST00000616902.4:c.1120C>T | ENSP00000482824.1:p.Arg374Ter | |
| NM_006343.2:c.2164C>T | NP_006334.2:p.Arg722Ter | |
| XM_005263565.3:c.2164C>T | XP_005263622.1:p.Arg722Ter | |
| XM_005263568.3:c.2164C>T | XP_005263625.1:p.Arg722Ter | |
| XM_011510490.1:c.1975C>T | XP_011508792.1:p.Arg659Ter | |
| XM_011510491.1:c.949C>T | XP_011508793.1:p.Arg317Ter | |
| XM_005263565.4:c.2164C>T | XP_005263622.1:p.Arg722Ter | |
| XM_005263568.4:c.2164C>T | XP_005263625.1:p.Arg722Ter | |
| XM_011510490.3:c.1975C>T | XP_011508792.1:p.Arg659Ter | |
| XM_017003164.1:c.1975C>T | XP_016858653.1:p.Arg659Ter | |
| XM_017003165.2:c.949C>T | XP_016858654.1:p.Arg317Ter | |
| NM_006343.3:c.2164C>T MANE Select | NP_006334.2:p.Arg722Ter |