Linked Data
ClinVar Variation Id:
379342
dbSNP Id:
rs1057520579
gnomAD v2:
X-153608133-G-A
gnomAD v4:
X-154379773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379773G>A , CM000685.2:g.154379773G>A | GRCh38 |
| NC_000023.10:g.153608133G>A , CM000685.1:g.153608133G>A | GRCh37 |
| NC_000023.9:g.153261327G>A | NCBI36 |
| NG_008677.1:g.10338G>A , LRG_745:g.10338G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.166G>A | ENSP00000507245.1:p.Ala56Thr | |
| ENST00000682478.1:n.142G>A | ||
| ENST00000683576.1:n.142G>A | ||
| ENST00000683627.1:c.166G>A | ENSP00000507533.1:p.Ala56Thr | |
| ENST00000684082.1:c.166G>A | ENSP00000508266.1:p.Ala56Thr | |
| ENST00000684633.1:n.138G>A | ||
| ENST00000684678.1:c.162G>A | ENSP00000507059.1:p.Pro54= | |
| ENST00000369842.9:c.166G>A MANE Select | ENSP00000358857.4:p.Ala56Thr | |
| ENST00000369835.3:c.83-169G>A | ENSP00000358850.3:n.83-169G>A | |
| ENST00000369842.8:c.166G>A | ENSP00000358857.4:p.Ala56Thr | |
| ENST00000428228.5:c.*71G>A | ENSP00000401081.1:n.*71G>A | |
| ENST00000468294.5:n.126G>A | ||
| ENST00000485261.1:n.164-169G>A | ||
| ENST00000486738.5:n.310G>A | ||
| ENST00000492448.1:n.149G>A | ||
| ENST00000494443.5:n.223G>A | ||
| NM_000117.2:c.166G>A , LRG_745t1:c.166G>A | NP_000108.1:p.Ala56Thr | |
| XM_024452349.1:c.-43G>A | XP_024308117.1:n.-43G>A | |
| NM_000117.3:c.166G>A MANE Select | NP_000108.1:p.Ala56Thr |