Linked Data
ClinVar Variation Id:
2148480
ClinVar RCV Id:
RCV003081157
dbSNP Id:
rs763049172
ExAC:
17:61574572 C / T
gnomAD v2:
17-61574572-C-T
gnomAD v3:
17-63497211-C-T
gnomAD v4:
17-63497211-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63497211C>T , CM000679.2:g.63497211C>T | GRCh38 |
| NC_000017.10:g.61574572C>T , CM000679.1:g.61574572C>T | GRCh37 |
| NC_000017.9:g.58928304C>T | NCBI36 |
| NG_011648.1:g.25139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.3766C>T MANE Select | ENSP00000290866.4:p.Arg1256Cys | |
| ENST00000290863.10:c.2044C>T | ENSP00000290863.6:p.Arg682Cys | |
| ENST00000290866.9:c.3766C>T | ENSP00000290866.4:p.Arg1256Cys | |
| ENST00000413513.7:c.1921C>T | ENSP00000392247.3:p.Arg641Cys | |
| ENST00000428043.5:c.*188C>T | ENSP00000397593.2:n.*188C>T | |
| ENST00000577647.2:c.1969+226C>T | ENSP00000464149.1:n.1969+226C>T | |
| ENST00000578839.5:c.*1521C>T | ENSP00000462110.2:n.*1521C>T | |
| ENST00000579314.5:c.*1495C>T | ENSP00000462599.1:n.*1495C>T | |
| NM_000789.3:c.3766C>T | NP_000780.1:p.Arg1256Cys | |
| NM_001178057.1:c.1921C>T | NP_001171528.1:p.Arg641Cys | |
| NM_152830.2:c.2044C>T | NP_690043.1:p.Arg682Cys | |
| XM_005257110.1:c.3217C>T | XP_005257167.1:p.Arg1073Cys | |
| XM_006721737.2:c.2104C>T | XP_006721800.2:p.Arg702Cys | |
| XM_006721737.3:c.2104C>T | XP_006721800.2:p.Arg702Cys | |
| NM_000789.4:c.3766C>T MANE Select | NP_000780.1:p.Arg1256Cys | |
| NM_001178057.2:c.1921C>T | NP_001171528.1:p.Arg641Cys | |
| NM_152830.3:c.2044C>T | NP_690043.1:p.Arg682Cys | |
| NM_001382700.1:c.3199C>T | NP_001369629.1:p.Arg1067Cys | |
| NM_001382701.1:c.2914C>T | NP_001369630.1:p.Arg972Cys | |
| NM_001382702.1:c.1381C>T | NP_001369631.1:p.Arg461Cys | |
| NR_168483.1:n.2144C>T |