Linked Data
ClinVar Variation Id:
289282
dbSNP Id:
rs201153928
ExAC:
X:153579979 G / A
gnomAD v2:
X-153579979-G-A
gnomAD v3:
X-154351611-G-A
gnomAD v4:
X-154351611-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351611G>A , CM000685.2:g.154351611G>A | GRCh38 |
| NC_000023.10:g.153579979G>A , CM000685.1:g.153579979G>A | GRCh37 |
| NC_000023.9:g.153233173G>A | NCBI36 |
| NG_011506.1:g.28028C>T | |
| NG_011506.2:g.28028C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6969C>T | ENSP00000353467.4:p.Asp2323= | |
| ENST00000369850.10:c.6993C>T MANE Select | ENSP00000358866.3:p.Asp2331= | |
| ENST00000369856.8:c.6912C>T | ENSP00000358872.4:p.Asp2304= | |
| ENST00000422373.6:c.3774C>T | ENSP00000416926.2:p.Asp1258= | |
| ENST00000610817.5:c.7050C>T | ENSP00000480593.2:n.7050C>T | |
| ENST00000673639.2:c.280-2921C>T | ||
| ENST00000676696.1:c.7272C>T | ENSP00000503392.1:n.7272C>T | |
| ENST00000678304.1:n.2172C>T | ||
| ENST00000344736.8:c.6873C>T | ENSP00000358863.3:p.Asp2291= | |
| ENST00000360319.8:c.6969C>T | ENSP00000353467.4:p.Asp2323= | |
| ENST00000369850.7:c.6993C>T | ENSP00000358866.3:p.Asp2331= | |
| ENST00000369856.7:c.6912C>T | ENSP00000358872.4:p.Asp2304= | |
| ENST00000420627.5:c.6949C>T | ENSP00000408921.1:n.6949C>T | |
| ENST00000422373.5:c.6969C>T | ENSP00000416926.1:p.Asp2323= | |
| ENST00000444578.1:c.813C>T | ENSP00000397824.1:p.Asp271= | |
| ENST00000490936.5:n.2982C>T | ||
| ENST00000498411.1:n.67+1206C>T | ||
| ENST00000610817.4:c.5997C>T | ENSP00000480593.1:p.Asp1999= | |
| NM_001110556.1:c.6993C>T | NP_001104026.1:p.Asp2331= | |
| NM_001456.3:c.6969C>T | NP_001447.2:p.Asp2323= | |
| XM_011531127.1:c.6897C>T | XP_011529429.1:p.Asp2299= | |
| XM_011531128.1:c.6873C>T | XP_011529430.1:p.Asp2291= | |
| XM_011531129.1:c.6819C>T | XP_011529431.1:p.Asp2273= | |
| XM_011531130.1:c.6795C>T | XP_011529432.1:p.Asp2265= | |
| XM_011531131.1:c.6792C>T | XP_011529433.1:p.Asp2264= | |
| NM_001110556.2:c.6993C>T MANE Select | NP_001104026.1:p.Asp2331= | |
| NM_001456.4:c.6969C>T | NP_001447.2:p.Asp2323= |