Linked Data
ClinVar Variation Id:
423352
dbSNP Id:
rs398123157
ExAC:
X:153608683 C / A
gnomAD v2:
X-153608683-C-A
gnomAD v3:
X-154380323-C-A
gnomAD v4:
X-154380323-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380323C>A , CM000685.2:g.154380323C>A | GRCh38 |
| NC_000023.10:g.153608683C>A , CM000685.1:g.153608683C>A | GRCh37 |
| NC_000023.9:g.153261877C>A | NCBI36 |
| NG_008677.1:g.10888C>A , LRG_745:g.10888C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.355C>A | ENSP00000507245.1:p.Gln119Lys | |
| ENST00000682478.1:n.545C>A | ||
| ENST00000683576.1:n.545C>A | ||
| ENST00000683627.1:c.355C>A | ENSP00000507533.1:p.Gln119Lys | |
| ENST00000684082.1:c.312C>A | ENSP00000508266.1:p.Ala104= | |
| ENST00000684633.1:n.327C>A | ||
| ENST00000684678.1:c.351C>A | ENSP00000507059.1:n.351C>A | |
| ENST00000369842.9:c.355C>A MANE Select | ENSP00000358857.4:p.Gln119Lys | |
| ENST00000369835.3:c.250C>A | ENSP00000358850.3:p.Gln84Lys | |
| ENST00000369842.8:c.355C>A | ENSP00000358857.4:p.Gln119Lys | |
| ENST00000428228.5:c.*260C>A | ENSP00000401081.1:n.*260C>A | |
| ENST00000468294.5:n.315C>A | ||
| ENST00000485261.1:n.545C>A | ||
| ENST00000486738.5:n.713C>A | ||
| ENST00000492448.1:n.338C>A | ||
| ENST00000494443.5:n.626C>A | ||
| NM_000117.2:c.355C>A , LRG_745t1:c.355C>A | NP_000108.1:p.Gln119Lys | |
| XM_024452349.1:c.361C>A | XP_024308117.1:p.Gln121Lys | |
| NM_000117.3:c.355C>A MANE Select | NP_000108.1:p.Gln119Lys |