Linked Data
ClinVar Variation Id:
498894
dbSNP Id:
rs782289803
ExAC:
X:153578473 A / G
gnomAD v2:
X-153578473-A-G
gnomAD v3:
X-154350105-A-G
gnomAD v4:
X-154350105-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154350105A>G , CM000685.2:g.154350105A>G | GRCh38 |
| NC_000023.10:g.153578473A>G , CM000685.1:g.153578473A>G | GRCh37 |
| NC_000023.9:g.153231667A>G | NCBI36 |
| NG_011506.1:g.29534T>C | |
| NG_011506.2:g.29534T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7235T>C | ENSP00000353467.4:p.Val2412Ala | |
| ENST00000369850.10:c.7259T>C MANE Select | ENSP00000358866.3:p.Val2420Ala | |
| ENST00000369856.8:c.7178T>C | ENSP00000358872.4:p.Val2393Ala | |
| ENST00000422373.6:c.4040T>C | ENSP00000416926.2:p.Val1347Ala | |
| ENST00000610817.5:c.7316T>C | ENSP00000480593.2:n.7316T>C | |
| ENST00000673639.2:c.280-1415T>C | ||
| ENST00000676696.1:c.7538T>C | ENSP00000503392.1:n.7538T>C | |
| ENST00000678304.1:n.2977T>C | ||
| ENST00000344736.8:c.7139T>C | ENSP00000358863.3:p.Val2380Ala | |
| ENST00000360319.8:c.7235T>C | ENSP00000353467.4:p.Val2412Ala | |
| ENST00000369850.7:c.7259T>C | ENSP00000358866.3:p.Val2420Ala | |
| ENST00000369856.7:c.7178T>C | ENSP00000358872.4:p.Val2393Ala | |
| ENST00000420627.5:c.7215T>C | ENSP00000408921.1:n.7215T>C | |
| ENST00000422373.5:c.7235T>C | ENSP00000416926.1:p.Val2412Ala | |
| ENST00000462590.1:n.251T>C | ||
| ENST00000490936.5:n.4488T>C | ||
| ENST00000498411.1:n.68-1275T>C | ||
| ENST00000498491.5:n.300T>C | ||
| ENST00000610817.4:c.6263T>C | ENSP00000480593.1:p.Val2088Ala | |
| NM_001110556.1:c.7259T>C | NP_001104026.1:p.Val2420Ala | |
| NM_001456.3:c.7235T>C | NP_001447.2:p.Val2412Ala | |
| XM_011531127.1:c.7163T>C | XP_011529429.1:p.Val2388Ala | |
| XM_011531128.1:c.7139T>C | XP_011529430.1:p.Val2380Ala | |
| XM_011531129.1:c.7085T>C | XP_011529431.1:p.Val2362Ala | |
| XM_011531130.1:c.7061T>C | XP_011529432.1:p.Val2354Ala | |
| XM_011531131.1:c.7058T>C | XP_011529433.1:p.Val2353Ala | |
| NM_001110556.2:c.7259T>C MANE Select | NP_001104026.1:p.Val2420Ala | |
| NM_001456.4:c.7235T>C | NP_001447.2:p.Val2412Ala |