Linked Data
ClinVar Variation Id:
143084
dbSNP Id:
rs115857633
ExAC:
2:234229344 C / T
gnomAD v2:
2-234229344-C-T
gnomAD v3:
2-233320698-C-T
gnomAD v4:
2-233320698-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233320698C>T , CM000664.2:g.233320698C>T | GRCh38 |
| NC_000002.11:g.234229344C>T , CM000664.1:g.234229344C>T | GRCh37 |
| NC_000002.10:g.233894083C>T | NCBI36 |
| NG_009116.1:g.18036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409110.6:c.250C>T MANE Select | ENSP00000386444.1:p.Arg84Cys | |
| ENST00000409110.5:c.250C>T | ENSP00000386444.1:p.Arg84Cys | |
| ENST00000412969.6:n.315+1903C>T | ||
| ENST00000447536.5:c.250C>T | ENSP00000408937.1:p.Arg84Cys | |
| ENST00000453143.5:c.*81C>T | ENSP00000404733.1:n.*81C>T | |
| ENST00000461532.1:n.545C>T | ||
| ENST00000462487.5:n.319C>T | ||
| ENST00000471884.5:n.421C>T | ||
| ENST00000474206.1:n.92-5C>T | ||
| ENST00000476500.5:n.416+1903C>T | ||
| ENST00000479450.1:n.140-2248C>T | ||
| NM_000541.4:c.250C>T | NP_000532.2:p.Arg84Cys | |
| XM_011511589.1:c.250C>T | XP_011509891.1:p.Arg84Cys | |
| XM_011511590.1:c.250C>T | XP_011509892.1:p.Arg84Cys | |
| XM_011511591.1:c.250C>T | XP_011509893.1:p.Arg84Cys | |
| XM_011511592.1:c.94C>T | XP_011509894.1:p.Arg32Cys | |
| XM_011511593.1:c.75+675C>T | XP_011509895.1:n.75+675C>T | |
| XM_011511595.1:c.250C>T | XP_011509897.1:p.Arg84Cys | |
| XM_011511596.1:c.-153C>T | XP_011509898.1:n.-153C>T | |
| XM_011511597.1:c.-28+1903C>T | XP_011509899.1:n.-28+1903C>T | |
| XR_922978.1:n.446C>T | ||
| XR_922979.1:n.446C>T | ||
| XR_922980.1:n.545C>T | ||
| XM_011511593.3:c.75+675C>T | XP_011509895.1:n.75+675C>T | |
| XM_017004641.1:c.250C>T | XP_016860130.1:p.Arg84Cys | |
| XM_017004642.1:c.250C>T | XP_016860131.1:p.Arg84Cys | |
| XM_017004643.1:c.250C>T | XP_016860132.1:p.Arg84Cys | |
| XM_024453036.1:c.-153C>T | XP_024308804.1:n.-153C>T | |
| XR_001738882.1:n.327C>T | ||
| XR_922980.2:n.545C>T | ||
| NM_000541.5:c.250C>T MANE Select | NP_000532.2:p.Arg84Cys |