Linked Data
ClinVar Variation Id:
1474428
ClinVar RCV Id:
RCV002005507
dbSNP Id:
rs782326194
ExAC:
X:152959648 C / T
gnomAD v2:
X-152959648-C-T
gnomAD v3:
X-153694193-C-T
gnomAD v4:
X-153694193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694193C>T , CM000685.2:g.153694193C>T | GRCh38 |
| NC_000023.10:g.152959648C>T , CM000685.1:g.152959648C>T | GRCh37 |
| NC_000023.9:g.152612842C>T | NCBI36 |
| NG_012016.1:g.10897C>T | |
| NG_012016.2:g.10897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1318C>T MANE Select | ENSP00000253122.5:p.Arg440Cys | |
| ENST00000253122.9:c.1318C>T | ENSP00000253122.5:p.Arg440Cys | |
| ENST00000413787.1:c.258-11C>T | ENSP00000400463.1:n.258-11C>T | |
| ENST00000430077.6:c.973C>T | ENSP00000403041.2:p.Arg325Cys | |
| ENST00000442457.1:c.372C>T | ||
| ENST00000485324.1:n.1463C>T | ||
| NM_001142805.1:c.1288C>T | NP_001136277.1:p.Arg430Cys | |
| NM_001142806.1:c.973C>T | NP_001136278.1:p.Arg325Cys | |
| NM_005629.3:c.1318C>T | NP_005620.1:p.Arg440Cys | |
| NM_005629.4:c.1318C>T MANE Select | NP_005620.1:p.Arg440Cys | |
| NM_001142805.2:c.1288C>T | NP_001136277.1:p.Arg430Cys |