Linked Data
ClinVar Variation Id:
829270
ClinVar RCV Id:
RCV001029191
dbSNP Id:
rs370868117
ExAC:
6:154360645 C / T
gnomAD v2:
6-154360645-C-T
gnomAD v4:
6-154039510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154039510C>T , CM000668.2:g.154039510C>T | GRCh38 |
| NC_000006.11:g.154360645C>T , CM000668.1:g.154360645C>T | GRCh37 |
| NC_000006.10:g.154402338C>T | NCBI36 |
| NG_021208.1:g.34010C>T | |
| NG_021208.2:g.34010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330432.12:c.-35C>T MANE Select | ENSP00000328264.7:n.-35C>T | |
| ENST00000229768.9:c.-35C>T | ENSP00000229768.5:n.-35C>T | |
| ENST00000330432.11:c.-35C>T | ENSP00000328264.7:n.-35C>T | |
| ENST00000337049.8:c.-35C>T | ENSP00000338381.4:n.-35C>T | |
| ENST00000360422.8:c.152C>T | ENSP00000353598.5:p.Thr51Ile | |
| ENST00000414028.6:c.-35C>T | ENSP00000399359.2:n.-35C>T | |
| ENST00000419506.6:c.-35C>T | ENSP00000403549.2:n.-35C>T | |
| ENST00000428397.6:c.-35C>T | ENSP00000411903.2:n.-35C>T | |
| ENST00000434900.6:c.245C>T | ENSP00000394624.2:p.Thr82Ile | |
| ENST00000435918.6:c.-35C>T | ENSP00000413752.2:n.-35C>T | |
| ENST00000452687.6:c.-35C>T | ENSP00000410497.2:n.-35C>T | |
| ENST00000518759.5:c.47+28951C>T | ENSP00000430260.1:n.47+28951C>T | |
| ENST00000519083.5:c.-35C>T | ENSP00000431048.1:n.-35C>T | |
| ENST00000520282.5:c.110C>T | ENSP00000430247.1:p.Thr37Ile | |
| ENST00000520708.5:c.-11+28492C>T | ENSP00000430876.1:n.-11+28492C>T | |
| ENST00000522739.5:c.-35C>T | ENSP00000428018.1:n.-35C>T | |
| ENST00000523520.1:n.147C>T | ||
| ENST00000524150.2:c.-35C>T | ENSP00000430575.1:n.-35C>T | |
| ENST00000524163.5:c.-35C>T | ENSP00000430097.1:n.-35C>T | |
| NM_000914.4:c.-35C>T | NP_000905.3:n.-35C>T | |
| NM_001008503.2:c.-35C>T | NP_001008503.2:n.-35C>T | |
| NM_001008504.3:c.-35C>T | NP_001008504.2:n.-35C>T | |
| NM_001008505.2:c.-35C>T | NP_001008505.2:n.-35C>T | |
| NM_001145279.3:c.245C>T | NP_001138751.1:p.Thr82Ile | |
| NM_001145280.3:c.-11+28492C>T | NP_001138752.1:n.-11+28492C>T | |
| NM_001145281.2:c.47+28951C>T | NP_001138753.1:n.47+28951C>T | |
| NM_001145282.2:c.-35C>T | NP_001138754.1:n.-35C>T | |
| NM_001145283.2:c.-35C>T | NP_001138755.1:n.-35C>T | |
| NM_001145284.3:c.-35C>T | NP_001138756.1:n.-35C>T | |
| NM_001145285.2:c.-35C>T | NP_001138757.1:n.-35C>T | |
| NM_001145286.2:c.-35C>T | NP_001138758.1:n.-35C>T | |
| NM_001285522.1:c.-35C>T | NP_001272451.1:n.-35C>T | |
| NM_001285523.1:c.-35C>T | NP_001272452.1:n.-35C>T | |
| NM_001285524.1:c.245C>T | NP_001272453.1:p.Thr82Ile | |
| NR_104348.1:n.100C>T | ||
| NR_104349.1:n.100C>T | ||
| NR_104350.1:n.100C>T | ||
| NR_104351.1:n.100C>T | ||
| XM_006715497.2:c.152C>T | XP_006715560.1:p.Thr51Ile | |
| XM_011535849.1:c.245C>T | XP_011534151.1:p.Thr82Ile | |
| NM_001285523.2:c.-35C>T | NP_001272452.1:n.-35C>T | |
| XM_017010907.2:c.152C>T | XP_016866396.1:p.Thr51Ile | |
| NM_000914.5:c.-35C>T MANE Select | NP_000905.3:n.-35C>T | |
| NM_001008503.3:c.-35C>T | NP_001008503.2:n.-35C>T | |
| NM_001008504.4:c.-35C>T | NP_001008504.2:n.-35C>T | |
| NM_001145279.4:c.245C>T | NP_001138751.1:p.Thr82Ile | |
| NM_001145280.4:c.-11+28492C>T | NP_001138752.1:n.-11+28492C>T | |
| NM_001145281.3:c.47+28951C>T | NP_001138753.1:n.47+28951C>T | |
| NM_001145285.3:c.-35C>T | NP_001138757.1:n.-35C>T | |
| NM_001145286.3:c.-35C>T | NP_001138758.1:n.-35C>T | |
| NM_001285523.3:c.-35C>T | NP_001272452.1:n.-35C>T |