Linked Data
ClinVar Variation Id:
435203
dbSNP Id:
rs781984274
ExAC:
X:153580593 C / T
gnomAD v2:
X-153580593-C-T
gnomAD v3:
X-154352225-C-T
gnomAD v4:
X-154352225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352225C>T , CM000685.2:g.154352225C>T | GRCh38 |
| NC_000023.10:g.153580593C>T , CM000685.1:g.153580593C>T | GRCh37 |
| NC_000023.9:g.153233787C>T | NCBI36 |
| NG_011506.1:g.27414G>A | |
| NG_011506.2:g.27414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6701G>A | ENSP00000353467.4:p.Arg2234Gln | |
| ENST00000369850.10:c.6725G>A MANE Select | ENSP00000358866.3:p.Arg2242Gln | |
| ENST00000369856.8:c.6644G>A | ENSP00000358872.4:p.Arg2215Gln | |
| ENST00000422373.6:c.3506G>A | ENSP00000416926.2:p.Arg1169Gln | |
| ENST00000610817.5:c.6782G>A | ENSP00000480593.2:n.6782G>A | |
| ENST00000673639.2:c.280-3535G>A | ||
| ENST00000676696.1:c.7004G>A | ENSP00000503392.1:n.7004G>A | |
| ENST00000678304.1:n.1904G>A | ||
| ENST00000344736.8:c.6605G>A | ENSP00000358863.3:p.Arg2202Gln | |
| ENST00000360319.8:c.6701G>A | ENSP00000353467.4:p.Arg2234Gln | |
| ENST00000369850.7:c.6725G>A | ENSP00000358866.3:p.Arg2242Gln | |
| ENST00000369856.7:c.6644G>A | ENSP00000358872.4:p.Arg2215Gln | |
| ENST00000420627.5:c.6681G>A | ENSP00000408921.1:n.6681G>A | |
| ENST00000422373.5:c.6701G>A | ENSP00000416926.1:p.Arg2234Gln | |
| ENST00000444578.1:c.545G>A | ENSP00000397824.1:p.Arg182Gln | |
| ENST00000474358.5:n.358G>A | ||
| ENST00000490936.5:n.2714G>A | ||
| ENST00000498411.1:n.67+592G>A | ||
| ENST00000610817.4:c.5845-275G>A | ENSP00000480593.1:n.5845-275G>A | |
| NM_001110556.1:c.6725G>A | NP_001104026.1:p.Arg2242Gln | |
| NM_001456.3:c.6701G>A | NP_001447.2:p.Arg2234Gln | |
| XM_011531127.1:c.6629G>A | XP_011529429.1:p.Arg2210Gln | |
| XM_011531128.1:c.6605G>A | XP_011529430.1:p.Arg2202Gln | |
| XM_011531129.1:c.6551G>A | XP_011529431.1:p.Arg2184Gln | |
| XM_011531130.1:c.6527G>A | XP_011529432.1:p.Arg2176Gln | |
| XM_011531131.1:c.6524G>A | XP_011529433.1:p.Arg2175Gln | |
| NM_001110556.2:c.6725G>A MANE Select | NP_001104026.1:p.Arg2242Gln | |
| NM_001456.4:c.6701G>A | NP_001447.2:p.Arg2234Gln |