Linked Data
ClinVar Variation Id:
465005
dbSNP Id:
rs190712778
ExAC:
X:153581775 T / A
gnomAD v2:
X-153581775-T-A
gnomAD v3:
X-154353407-T-A
gnomAD v4:
X-154353407-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353407T>A , CM000685.2:g.154353407T>A | GRCh38 |
| NC_000023.10:g.153581775T>A , CM000685.1:g.153581775T>A | GRCh37 |
| NC_000023.9:g.153234969T>A | NCBI36 |
| NG_011506.1:g.26232A>T | |
| NG_011506.2:g.26232A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.5887A>T | ENSP00000353467.4:p.Ile1963Phe | |
| ENST00000369850.10:c.5911A>T MANE Select | ENSP00000358866.3:p.Ile1971Phe | |
| ENST00000369856.8:c.5830A>T | ENSP00000358872.4:p.Ile1944Phe | |
| ENST00000422373.6:c.3161-732A>T | ENSP00000416926.2:n.3161-732A>T | |
| ENST00000610817.5:c.5968A>T | ENSP00000480593.2:n.5968A>T | |
| ENST00000673639.2:c.280-4717A>T | ||
| ENST00000676696.1:c.6190A>T | ENSP00000503392.1:n.6190A>T | |
| ENST00000678304.1:n.1090A>T | ||
| ENST00000344736.8:c.5791A>T | ENSP00000358863.3:p.Ile1931Phe | |
| ENST00000360319.8:c.5887A>T | ENSP00000353467.4:p.Ile1963Phe | |
| ENST00000369850.7:c.5911A>T | ENSP00000358866.3:p.Ile1971Phe | |
| ENST00000369856.7:c.5830A>T | ENSP00000358872.4:p.Ile1944Phe | |
| ENST00000415241.1:c.96A>T | ||
| ENST00000420627.5:c.5867A>T | ENSP00000408921.1:n.5867A>T | |
| ENST00000422373.5:c.5887A>T | ENSP00000416926.1:p.Ile1963Phe | |
| ENST00000438732.2:c.585A>T | ||
| ENST00000466325.1:n.50A>T | ||
| ENST00000490936.5:n.1900A>T | ||
| ENST00000610817.4:c.5830A>T | ENSP00000480593.1:p.Ile1944Phe | |
| NM_001110556.1:c.5911A>T | NP_001104026.1:p.Ile1971Phe | |
| NM_001456.3:c.5887A>T | NP_001447.2:p.Ile1963Phe | |
| XM_011531127.1:c.5815A>T | XP_011529429.1:p.Ile1939Phe | |
| XM_011531128.1:c.5791A>T | XP_011529430.1:p.Ile1931Phe | |
| XM_011531129.1:c.5737A>T | XP_011529431.1:p.Ile1913Phe | |
| XM_011531130.1:c.5713A>T | XP_011529432.1:p.Ile1905Phe | |
| XM_011531131.1:c.5710A>T | XP_011529433.1:p.Ile1904Phe | |
| NM_001110556.2:c.5911A>T MANE Select | NP_001104026.1:p.Ile1971Phe | |
| NM_001456.4:c.5887A>T | NP_001447.2:p.Ile1963Phe |