Linked Data
dbSNP Id:
rs755020721
gnomAD v4:
8-74364025-C-T
MyVariant Identifiers:
chr8:g.75276260C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74364025C>T , CM000670.2:g.74364025C>T | GRCh38 |
| NC_000008.10:g.75276260C>T , CM000670.1:g.75276260C>T | GRCh37 |
| NC_000008.9:g.75438815C>T | NCBI36 |
| NG_008787.2:g.47896C>T | |
| NG_008787.3:g.47896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220822.12:c.735C>T MANE Select | ENSP00000220822.7:p.Thr245= | |
| ENST00000434412.3:c.603C>T | ENSP00000417006.3:p.Thr201= | |
| ENST00000520797.6:n.846C>T | ||
| ENST00000521096.6:n.591C>T | ||
| ENST00000522568.2:c.*407C>T | ENSP00000430136.1:n.*407C>T | |
| ENST00000523640.2:c.165+12704C>T | ENSP00000502017.1:n.165+12704C>T | |
| ENST00000524195.2:c.280+972C>T | ENSP00000502308.1:n.280+972C>T | |
| ENST00000674612.1:c.408C>T | ENSP00000501864.1:p.Thr136= | |
| ENST00000674710.1:c.694+972C>T | ENSP00000502762.1:n.694+972C>T | |
| ENST00000674754.1:c.*2298C>T | ENSP00000502063.1:n.*2298C>T | |
| ENST00000674756.1:c.*366+972C>T | ENSP00000501860.1:n.*366+972C>T | |
| ENST00000674806.1:c.408C>T | ENSP00000502637.1:p.Thr136= | |
| ENST00000674865.1:c.531C>T | ENSP00000502437.1:p.Thr177= | |
| ENST00000674926.1:c.*1367C>T | ENSP00000501799.1:n.*1367C>T | |
| ENST00000674934.1:c.*423C>T | ENSP00000502187.1:n.*423C>T | |
| ENST00000674944.1:c.*1338C>T | ENSP00000501858.1:n.*1338C>T | |
| ENST00000674946.1:c.694+972C>T | ENSP00000501569.1:n.694+972C>T | |
| ENST00000674973.1:c.429C>T | ENSP00000502447.1:p.Thr143= | |
| ENST00000675007.1:c.*473C>T | ENSP00000502119.1:n.*473C>T | |
| ENST00000675060.1:c.*400C>T | ENSP00000501616.1:n.*400C>T | |
| ENST00000675165.1:c.732C>T | ENSP00000502612.1:p.Thr244= | |
| ENST00000675220.1:c.408C>T | ENSP00000502588.1:p.Thr136= | |
| ENST00000675265.1:c.*485C>T | ENSP00000501848.1:n.*485C>T | |
| ENST00000675336.1:c.*221C>T | ENSP00000502120.1:n.*221C>T | |
| ENST00000675376.1:c.408C>T | ENSP00000502838.1:p.Thr136= | |
| ENST00000675463.1:c.813C>T | ENSP00000502327.1:p.Thr271= | |
| ENST00000675472.1:c.*221C>T | ENSP00000501946.1:n.*221C>T | |
| ENST00000675474.1:n.320C>T | ||
| ENST00000675560.1:c.*366+972C>T | ENSP00000502118.1:n.*366+972C>T | |
| ENST00000675625.1:c.*407C>T | ENSP00000501626.1:n.*407C>T | |
| ENST00000675633.1:c.*142C>T | ENSP00000501785.1:n.*142C>T | |
| ENST00000675661.1:c.*495C>T | ENSP00000501958.1:n.*495C>T | |
| ENST00000675706.1:n.2693C>T | ||
| ENST00000675821.1:c.408C>T | ENSP00000502198.1:p.Thr136= | |
| ENST00000675832.1:c.*407C>T | ENSP00000502041.1:n.*407C>T | |
| ENST00000675928.1:c.561C>T | ENSP00000501568.1:p.Thr187= | |
| ENST00000675944.1:c.531C>T | ENSP00000502673.1:p.Thr177= | |
| ENST00000675999.1:c.694+972C>T | ENSP00000502572.1:n.694+972C>T | |
| ENST00000676049.1:c.*637C>T | ENSP00000501912.1:n.*637C>T | |
| ENST00000676112.1:c.801C>T | ENSP00000502295.1:p.Thr267= | |
| ENST00000676143.1:c.408C>T | ENSP00000502828.1:p.Thr136= | |
| ENST00000676207.1:c.694+972C>T | ENSP00000502638.1:n.694+972C>T | |
| ENST00000676377.1:c.408C>T | ENSP00000502756.1:p.Thr136= | |
| ENST00000676415.1:c.*41C>T | ENSP00000502665.1:n.*41C>T | |
| ENST00000676443.1:c.687C>T | ENSP00000501769.1:p.Thr229= | |
| ENST00000220822.11:c.735C>T | ENSP00000220822.7:p.Thr245= | |
| ENST00000434412.2:c.531C>T | ENSP00000417006.2:p.Thr177= | |
| ENST00000520797.5:n.500C>T | ||
| ENST00000521096.5:n.541C>T | ||
| ENST00000522568.1:c.*407C>T | ENSP00000430136.1:n.*407C>T | |
| ENST00000524195.1:n.103+972C>T | ||
| ENST00000524366.5:n.579C>T | ||
| NM_001040875.2:c.531C>T | NP_001035808.1:p.Thr177= | |
| NM_018972.2:c.735C>T | NP_061845.2:p.Thr245= | |
| NR_046346.1:n.669C>T | ||
| XM_011517551.1:c.1029C>T | XP_011515853.1:p.Thr343= | |
| XM_011517552.1:c.408C>T | XP_011515854.1:p.Thr136= | |
| NM_001040875.3:c.531C>T | NP_001035808.1:p.Thr177= | |
| NM_001362929.1:c.408C>T | NP_001349858.1:p.Thr136= | |
| NM_001362930.1:c.561C>T | NP_001349859.1:p.Thr187= | |
| NM_001362931.1:c.694+972C>T | NP_001349860.1:n.694+972C>T | |
| NM_001362932.1:c.408C>T | NP_001349861.1:p.Thr136= | |
| NM_018972.3:c.735C>T | NP_061845.2:p.Thr245= | |
| NM_001362931.2:c.694+972C>T | NP_001349860.1:n.694+972C>T | |
| NM_018972.4:c.735C>T MANE Select | NP_061845.2:p.Thr245= | |
| NM_001040875.4:c.531C>T | NP_001035808.1:p.Thr177= | |
| NM_001362929.2:c.408C>T | NP_001349858.1:p.Thr136= | |
| NM_001362930.2:c.561C>T | NP_001349859.1:p.Thr187= | |
| NM_001362932.2:c.408C>T | NP_001349861.1:p.Thr136= |