Linked Data
ClinVar Variation Id:
487550
dbSNP Id:
rs1051597475
gnomAD v4:
4-122226815-C-T
PubMed:
PMID:29290337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122226815C>T , CM000666.2:g.122226815C>T | GRCh38 |
| NC_000004.11:g.123147970C>T , CM000666.1:g.123147970C>T | GRCh37 |
| NC_000004.10:g.123367420C>T | NCBI36 |
| NG_015813.1:g.61213C>T | |
| NG_015813.2:g.61213C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388738.8:c.2902C>T | ENSP00000373390.4:p.Arg968Cys | |
| ENST00000424425.6:c.1001C>T | ||
| ENST00000684987.1:n.3225C>T | ||
| ENST00000686075.1:n.3225C>T | ||
| ENST00000687476.1:n.3043C>T | ||
| ENST00000689316.1:n.1367C>T | ||
| ENST00000690536.1:n.3225C>T | ||
| ENST00000693334.1:n.3225C>T | ||
| ENST00000693420.1:c.2902C>T | ENSP00000509435.1:p.Arg968Cys | |
| ENST00000679879.1:c.2902C>T MANE Select | ENSP00000505357.1:p.Arg968Cys | |
| ENST00000264501.8:c.2902C>T | ENSP00000264501.4:p.Arg968Cys | |
| ENST00000388738.7:c.2902C>T | ENSP00000373390.3:p.Arg968Cys | |
| ENST00000424425.5:c.2396C>T | ||
| ENST00000449251.1:c.417+2138C>T | ENSP00000413018.1:n.417+2138C>T | |
| ENST00000482114.1:n.3164C>T | ||
| ENST00000495260.5:n.1600C>T | ||
| NM_015312.3:c.2902C>T | NP_056127.2:p.Arg968Cys | |
| XM_005263282.1:c.2902C>T | XP_005263339.1:p.Arg968Cys | |
| XM_005263287.1:c.2902C>T | XP_005263344.1:p.Arg968Cys | |
| XM_006714343.1:c.2902C>T | XP_006714406.1:p.Arg968Cys | |
| XM_006714344.1:c.2899C>T | XP_006714407.1:p.Arg967Cys | |
| XM_011532319.1:c.2902C>T | XP_011530621.1:p.Arg968Cys | |
| XM_011532320.1:c.2902C>T | XP_011530622.1:p.Arg968Cys | |
| XM_011532321.1:c.2902C>T | XP_011530623.1:p.Arg968Cys | |
| XM_011532322.1:c.2899C>T | XP_011530624.1:p.Arg967Cys | |
| XM_011532323.1:c.2902C>T | XP_011530625.1:p.Arg968Cys | |
| XM_011532324.1:c.2902C>T | XP_011530626.1:p.Arg968Cys | |
| XM_011532325.1:c.2902C>T | XP_011530627.1:p.Arg968Cys | |
| XM_011532326.1:c.2793+2138C>T | XP_011530628.1:n.2793+2138C>T | |
| XM_011532327.1:c.2752C>T | XP_011530629.1:p.Arg918Cys | |
| XM_011532328.1:c.2902C>T | XP_011530630.1:p.Arg968Cys | |
| XM_011532329.1:c.2902C>T | XP_011530631.1:p.Arg968Cys | |
| XM_011532330.1:c.1153C>T | XP_011530632.1:p.Arg385Cys | |
| XM_011532331.1:c.2902C>T | XP_011530633.1:p.Arg968Cys | |
| XR_938781.1:n.3275C>T | ||
| XR_938782.1:n.3275C>T | ||
| XR_938783.1:n.3275C>T | ||
| XM_011532320.3:c.2902C>T | XP_011530622.1:p.Arg968Cys | |
| XM_011532321.2:c.2902C>T | XP_011530623.1:p.Arg968Cys | |
| XM_017008695.1:c.2902C>T | XP_016864184.1:p.Arg968Cys | |
| XM_017008696.1:c.2902C>T | XP_016864185.1:p.Arg968Cys | |
| XM_017008697.1:c.2902C>T | XP_016864186.1:p.Arg968Cys | |
| XM_017008698.1:c.133C>T | XP_016864187.1:p.Arg45Cys | |
| XM_017008699.1:c.2902C>T | XP_016864188.1:p.Arg968Cys | |
| XM_024454243.1:c.1054C>T | XP_024310011.1:p.Arg352Cys | |
| XR_001741335.2:n.3275C>T | ||
| XR_001741336.1:n.3275C>T | ||
| XR_001741337.1:n.3275C>T | ||
| NM_001384125.1:c.2902C>T MANE Select | NP_001371054.1:p.Arg968Cys | |
| NM_015312.4:c.2902C>T | NP_056127.2:p.Arg968Cys |