Linked Data
ClinVar Variation Id:
2893288
ClinVar RCV Id:
RCV003624206
dbSNP Id:
rs781994078
ExAC:
X:53409493 A / G
gnomAD v2:
X-53409493-A-G
gnomAD v4:
X-53382572-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53382572A>G , CM000685.2:g.53382572A>G | GRCh38 |
| NC_000023.10:g.53409493A>G , CM000685.1:g.53409493A>G | GRCh37 |
| NC_000023.9:g.53426218A>G | NCBI36 |
| NG_006988.2:g.45099T>C , LRG_773:g.45099T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3219T>C MANE Select | ENSP00000323421.3:p.Cys1073= | |
| ENST00000674590.1:c.2451T>C | ENSP00000502626.1:p.Cys817= | |
| ENST00000675504.1:c.3153T>C | ENSP00000502524.1:p.Cys1051= | |
| ENST00000322213.8:c.3219T>C | ENSP00000323421.3:p.Cys1073= | |
| ENST00000375340.10:c.3153T>C | ENSP00000364489.7:p.Cys1051= | |
| ENST00000469129.1:n.75T>C | ||
| ENST00000470241.2:c.509T>C | ||
| NM_001281463.1:c.3153T>C , LRG_773t1:c.3153T>C | NP_001268392.1:p.Cys1051= | |
| NM_006306.3:c.3219T>C , LRG_773t2:c.3219T>C | NP_006297.2:p.Cys1073= | |
| NM_006306.4:c.3219T>C MANE Select | NP_006297.2:p.Cys1073= |