Linked Data
ClinVar Variation Id:
1994929
ClinVar RCV Id:
RCV002791498
dbSNP Id:
rs924467351
gnomAD v2:
1-205027168-C-T
gnomAD v4:
1-205058040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205058040C>T , CM000663.2:g.205058040C>T | GRCh38 |
| NC_000001.10:g.205027168C>T , CM000663.1:g.205027168C>T | GRCh37 |
| NC_000001.9:g.203293791C>T | NCBI36 |
| NG_033845.1:g.19829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331830.7:c.190C>T MANE Select | ENSP00000330633.4:p.Arg64Trp | |
| ENST00000532366.2:c.*777C>T | ENSP00000491665.1:n.*777C>T | |
| ENST00000636809.2:n.478C>T | ||
| ENST00000638378.1:c.190C>T | ENSP00000492617.1:p.Arg64Trp | |
| ENST00000639302.1:c.190C>T | ENSP00000491671.1:p.Arg64Trp | |
| ENST00000639971.1:c.190C>T | ENSP00000491959.1:p.Arg64Trp | |
| ENST00000640326.1:c.190C>T | ENSP00000492495.1:p.Arg64Trp | |
| ENST00000640352.1:c.*777C>T | ENSP00000491080.1:n.*777C>T | |
| ENST00000640428.1:c.190C>T | ENSP00000491474.1:p.Arg64Trp | |
| ENST00000331830.4:c.190C>T | ENSP00000330633.4:p.Arg64Trp | |
| ENST00000532366.1:n.303C>T | ||
| NM_005076.3:c.190C>T | NP_005067.1:p.Arg64Trp | |
| XM_011509925.1:c.175C>T | XP_011508227.1:p.Arg59Trp | |
| NM_001346083.1:c.190C>T | NP_001333012.1:p.Arg64Trp | |
| NM_005076.4:c.190C>T | NP_005067.1:p.Arg64Trp | |
| NR_144350.1:n.547C>T | ||
| XM_017002198.1:c.190C>T | XP_016857687.1:p.Arg64Trp | |
| XM_017002199.2:c.175C>T | XP_016857688.1:p.Arg59Trp | |
| XM_024449386.1:c.229C>T | XP_024305154.1:p.Arg77Trp | |
| XM_024449387.1:c.-349C>T | XP_024305155.1:n.-349C>T | |
| XM_024449388.1:c.-349C>T | XP_024305156.1:n.-349C>T | |
| XM_024449389.1:c.229C>T | XP_024305157.1:p.Arg77Trp | |
| NM_005076.5:c.190C>T MANE Select | NP_005067.1:p.Arg64Trp | |
| NM_001346083.2:c.190C>T | NP_001333012.1:p.Arg64Trp | |
| NR_144350.2:n.459C>T |