Linked Data
ClinVar Variation Id:
283527
dbSNP Id:
rs376461465
ExAC:
X:153580355 A / G
gnomAD v2:
X-153580355-A-G
gnomAD v3:
X-154351987-A-G
gnomAD v4:
X-154351987-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351987A>G , CM000685.2:g.154351987A>G | GRCh38 |
| NC_000023.10:g.153580355A>G , CM000685.1:g.153580355A>G | GRCh37 |
| NC_000023.9:g.153233549A>G | NCBI36 |
| NG_011506.1:g.27652T>C | |
| NG_011506.2:g.27652T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6780T>C | ENSP00000353467.4:p.Ala2260= | |
| ENST00000369850.10:c.6804T>C MANE Select | ENSP00000358866.3:p.Ala2268= | |
| ENST00000369856.8:c.6723T>C | ENSP00000358872.4:p.Ala2241= | |
| ENST00000422373.6:c.3585T>C | ENSP00000416926.2:p.Ala1195= | |
| ENST00000610817.5:c.6861T>C | ENSP00000480593.2:n.6861T>C | |
| ENST00000673639.2:c.280-3297T>C | ||
| ENST00000676696.1:c.7083T>C | ENSP00000503392.1:n.7083T>C | |
| ENST00000678304.1:n.1983T>C | ||
| ENST00000344736.8:c.6684T>C | ENSP00000358863.3:p.Ala2228= | |
| ENST00000360319.8:c.6780T>C | ENSP00000353467.4:p.Ala2260= | |
| ENST00000369850.7:c.6804T>C | ENSP00000358866.3:p.Ala2268= | |
| ENST00000369856.7:c.6723T>C | ENSP00000358872.4:p.Ala2241= | |
| ENST00000420627.5:c.6760T>C | ENSP00000408921.1:n.6760T>C | |
| ENST00000422373.5:c.6780T>C | ENSP00000416926.1:p.Ala2260= | |
| ENST00000444578.1:c.624T>C | ENSP00000397824.1:p.Ala208= | |
| ENST00000474358.5:n.437T>C | ||
| ENST00000490936.5:n.2793T>C | ||
| ENST00000498411.1:n.67+830T>C | ||
| ENST00000610817.4:c.5845-37T>C | ENSP00000480593.1:n.5845-37T>C | |
| NM_001110556.1:c.6804T>C | NP_001104026.1:p.Ala2268= | |
| NM_001456.3:c.6780T>C | NP_001447.2:p.Ala2260= | |
| XM_011531127.1:c.6708T>C | XP_011529429.1:p.Ala2236= | |
| XM_011531128.1:c.6684T>C | XP_011529430.1:p.Ala2228= | |
| XM_011531129.1:c.6630T>C | XP_011529431.1:p.Ala2210= | |
| XM_011531130.1:c.6606T>C | XP_011529432.1:p.Ala2202= | |
| XM_011531131.1:c.6603T>C | XP_011529433.1:p.Ala2201= | |
| NM_001110556.2:c.6804T>C MANE Select | NP_001104026.1:p.Ala2268= | |
| NM_001456.4:c.6780T>C | NP_001447.2:p.Ala2260= |