Linked Data
ClinVar Variation Id:
9945
ClinVar RCV Id:
RCV000010623
dbSNP Id:
rs137852530
gnomAD v4:
X-78124992-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78124992C>A , CM000685.2:g.78124992C>A | GRCh38 |
| NC_000023.10:g.77380489C>A , CM000685.1:g.77380489C>A | GRCh37 |
| NC_000023.9:g.77267145C>A | NCBI36 |
| NG_008862.1:g.25824C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373316.5:c.1055C>A MANE Select | ENSP00000362413.4:p.Thr352Asn | |
| ENST00000644362.1:c.971C>A | ENSP00000496140.1:p.Thr324Asn | |
| ENST00000373316.4:c.1055C>A | ENSP00000362413.4:p.Thr352Asn | |
| ENST00000476531.1:n.49C>A | ||
| NM_000291.3:c.1055C>A | NP_000282.1:p.Thr352Asn | |
| NM_000291.4:c.1055C>A MANE Select | NP_000282.1:p.Thr352Asn |