Linked Data
ClinVar Variation Id:
435205
dbSNP Id:
rs370277156
ExAC:
X:153581212 T / C
gnomAD v2:
X-153581212-T-C
gnomAD v3:
X-154352844-T-C
gnomAD v4:
X-154352844-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352844T>C , CM000685.2:g.154352844T>C | GRCh38 |
| NC_000023.10:g.153581212T>C , CM000685.1:g.153581212T>C | GRCh37 |
| NC_000023.9:g.153234406T>C | NCBI36 |
| NG_011506.1:g.26795A>G | |
| NG_011506.2:g.26795A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6283A>G | ENSP00000353467.4:p.Arg2095Gly | |
| ENST00000369850.10:c.6307A>G MANE Select | ENSP00000358866.3:p.Arg2103Gly | |
| ENST00000369856.8:c.6226A>G | ENSP00000358872.4:p.Arg2076Gly | |
| ENST00000422373.6:c.3161-169A>G | ENSP00000416926.2:n.3161-169A>G | |
| ENST00000610817.5:c.6364A>G | ENSP00000480593.2:n.6364A>G | |
| ENST00000673639.2:c.280-4154A>G | ||
| ENST00000676696.1:c.6586A>G | ENSP00000503392.1:n.6586A>G | |
| ENST00000678304.1:n.1486A>G | ||
| ENST00000344736.8:c.6187A>G | ENSP00000358863.3:p.Arg2063Gly | |
| ENST00000360319.8:c.6283A>G | ENSP00000353467.4:p.Arg2095Gly | |
| ENST00000369850.7:c.6307A>G | ENSP00000358866.3:p.Arg2103Gly | |
| ENST00000369856.7:c.6226A>G | ENSP00000358872.4:p.Arg2076Gly | |
| ENST00000415241.1:c.509A>G | ||
| ENST00000420627.5:c.6263A>G | ENSP00000408921.1:n.6263A>G | |
| ENST00000422373.5:c.6283A>G | ENSP00000416926.1:p.Arg2095Gly | |
| ENST00000444578.1:c.250A>G | ENSP00000397824.1:p.Arg84Gly | |
| ENST00000466325.1:n.522A>G | ||
| ENST00000490936.5:n.2296A>G | ||
| ENST00000498411.1:n.40A>G | ||
| ENST00000610817.4:c.5844+549A>G | ENSP00000480593.1:n.5844+549A>G | |
| NM_001110556.1:c.6307A>G | NP_001104026.1:p.Arg2103Gly | |
| NM_001456.3:c.6283A>G | NP_001447.2:p.Arg2095Gly | |
| XM_011531127.1:c.6211A>G | XP_011529429.1:p.Arg2071Gly | |
| XM_011531128.1:c.6187A>G | XP_011529430.1:p.Arg2063Gly | |
| XM_011531129.1:c.6133A>G | XP_011529431.1:p.Arg2045Gly | |
| XM_011531130.1:c.6109A>G | XP_011529432.1:p.Arg2037Gly | |
| XM_011531131.1:c.6106A>G | XP_011529433.1:p.Arg2036Gly | |
| NM_001110556.2:c.6307A>G MANE Select | NP_001104026.1:p.Arg2103Gly | |
| NM_001456.4:c.6283A>G | NP_001447.2:p.Arg2095Gly |