Linked Data
ClinVar Variation Id:
706818
dbSNP Id:
rs1322660028
gnomAD v2:
X-153608099-G-A
gnomAD v3:
X-154379739-G-A
gnomAD v4:
X-154379739-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379739G>A , CM000685.2:g.154379739G>A | GRCh38 |
| NC_000023.10:g.153608099G>A , CM000685.1:g.153608099G>A | GRCh37 |
| NC_000023.9:g.153261293G>A | NCBI36 |
| NG_008677.1:g.10304G>A , LRG_745:g.10304G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.132G>A | ENSP00000507245.1:p.Gln44= | |
| ENST00000682478.1:n.108G>A | ||
| ENST00000683576.1:n.108G>A | ||
| ENST00000683627.1:c.132G>A | ENSP00000507533.1:p.Gln44= | |
| ENST00000684082.1:c.132G>A | ENSP00000508266.1:p.Gln44= | |
| ENST00000684633.1:n.104G>A | ||
| ENST00000684678.1:c.128G>A | ENSP00000507059.1:p.Arg43Lys | |
| ENST00000369842.9:c.132G>A MANE Select | ENSP00000358857.4:p.Gln44= | |
| ENST00000369835.3:c.82+173G>A | ENSP00000358850.3:n.82+173G>A | |
| ENST00000369842.8:c.132G>A | ENSP00000358857.4:p.Gln44= | |
| ENST00000428228.5:c.*37G>A | ENSP00000401081.1:n.*37G>A | |
| ENST00000468294.5:n.92G>A | ||
| ENST00000485261.1:n.163+173G>A | ||
| ENST00000486738.5:n.276G>A | ||
| ENST00000492448.1:n.115G>A | ||
| ENST00000494443.5:n.189G>A | ||
| NM_000117.2:c.132G>A , LRG_745t1:c.132G>A | NP_000108.1:p.Gln44= | |
| XM_024452349.1:c.-77G>A | XP_024308117.1:n.-77G>A | |
| NM_000117.3:c.132G>A MANE Select | NP_000108.1:p.Gln44= |