Linked Data
ClinVar Variation Id:
539323
ClinVar RCV Id:
RCV000649039
dbSNP Id:
rs745560847
ExAC:
X:15339636 T / C
gnomAD v2:
X-15339636-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15321514T>C , CM000685.2:g.15321514T>C | GRCh38 |
| NC_000023.10:g.15339636T>C , CM000685.1:g.15339636T>C | GRCh37 |
| NC_000023.9:g.15249557T>C | NCBI36 |
| NG_009786.1:g.19025A>G , LRG_160:g.19025A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.1447A>G MANE Select | ENSP00000369820.3:p.Thr483Ala | |
| ENST00000637296.1:c.502A>G | ENSP00000490545.1:p.Thr168Ala | |
| ENST00000637626.1:c.*928A>G | ENSP00000489928.1:n.*928A>G | |
| ENST00000638131.1:c.*708A>G | ENSP00000490483.1:n.*708A>G | |
| ENST00000333590.5:c.1447A>G | ENSP00000369820.3:p.Thr483Ala | |
| ENST00000482148.6:c.940A>G | ENSP00000489528.1:p.Thr314Ala | |
| ENST00000542278.6:c.1447A>G | ENSP00000442653.2:p.Thr483Ala | |
| ENST00000634582.1:c.745A>G | ENSP00000489540.1:p.Thr249Ala | |
| ENST00000635045.1:n.1680A>G | ||
| ENST00000635598.1:c.*716A>G | ENSP00000489207.1:n.*716A>G | |
| ENST00000635631.1:n.788A>G | ||
| NM_002641.3:c.1447A>G , LRG_160t1:c.1447A>G | NP_002632.1:p.Thr483Ala | |
| NM_020473.3:c.745A>G | NP_065206.3:p.Thr249Ala | |
| NR_033835.1:n.1189A>G | ||
| NR_033836.1:n.905A>G | ||
| XM_011545539.1:c.754A>G | XP_011543841.1:p.Thr252Ala | |
| XM_011545539.2:c.754A>G | XP_011543841.1:p.Thr252Ala | |
| NM_002641.4:c.1447A>G MANE Select | NP_002632.1:p.Thr483Ala |