Linked Data
ClinVar Variation Id:
213480
dbSNP Id:
rs200200745
ExAC:
X:153581205 G / C
gnomAD v2:
X-153581205-G-C
gnomAD v3:
X-154352837-G-C
gnomAD v4:
X-154352837-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352837G>C , CM000685.2:g.154352837G>C | GRCh38 |
| NC_000023.10:g.153581205G>C , CM000685.1:g.153581205G>C | GRCh37 |
| NC_000023.9:g.153234399G>C | NCBI36 |
| NG_011506.1:g.26802C>G | |
| NG_011506.2:g.26802C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6290C>G | ENSP00000353467.4:p.Thr2097Ser | |
| ENST00000369850.10:c.6314C>G MANE Select | ENSP00000358866.3:p.Thr2105Ser | |
| ENST00000369856.8:c.6233C>G | ENSP00000358872.4:p.Thr2078Ser | |
| ENST00000422373.6:c.3161-162C>G | ENSP00000416926.2:n.3161-162C>G | |
| ENST00000610817.5:c.6371C>G | ENSP00000480593.2:n.6371C>G | |
| ENST00000673639.2:c.280-4147C>G | ||
| ENST00000676696.1:c.6593C>G | ENSP00000503392.1:n.6593C>G | |
| ENST00000678304.1:n.1493C>G | ||
| ENST00000344736.8:c.6194C>G | ENSP00000358863.3:p.Thr2065Ser | |
| ENST00000360319.8:c.6290C>G | ENSP00000353467.4:p.Thr2097Ser | |
| ENST00000369850.7:c.6314C>G | ENSP00000358866.3:p.Thr2105Ser | |
| ENST00000369856.7:c.6233C>G | ENSP00000358872.4:p.Thr2078Ser | |
| ENST00000415241.1:c.516C>G | ||
| ENST00000420627.5:c.6270C>G | ENSP00000408921.1:n.6270C>G | |
| ENST00000422373.5:c.6290C>G | ENSP00000416926.1:p.Thr2097Ser | |
| ENST00000444578.1:c.257C>G | ENSP00000397824.1:p.Thr86Ser | |
| ENST00000466325.1:n.529C>G | ||
| ENST00000490936.5:n.2303C>G | ||
| ENST00000498411.1:n.47C>G | ||
| ENST00000610817.4:c.5844+556C>G | ENSP00000480593.1:n.5844+556C>G | |
| NM_001110556.1:c.6314C>G | NP_001104026.1:p.Thr2105Ser | |
| NM_001456.3:c.6290C>G | NP_001447.2:p.Thr2097Ser | |
| XM_011531127.1:c.6218C>G | XP_011529429.1:p.Thr2073Ser | |
| XM_011531128.1:c.6194C>G | XP_011529430.1:p.Thr2065Ser | |
| XM_011531129.1:c.6140C>G | XP_011529431.1:p.Thr2047Ser | |
| XM_011531130.1:c.6116C>G | XP_011529432.1:p.Thr2039Ser | |
| XM_011531131.1:c.6113C>G | XP_011529433.1:p.Thr2038Ser | |
| NM_001110556.2:c.6314C>G MANE Select | NP_001104026.1:p.Thr2105Ser | |
| NM_001456.4:c.6290C>G | NP_001447.2:p.Thr2097Ser |