Linked Data
ClinVar Variation Id:
211024
dbSNP Id:
rs797045581
gnomAD v2:
X-153580599-T-C
gnomAD v3:
X-154352231-T-C
gnomAD v4:
X-154352231-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352231T>C , CM000685.2:g.154352231T>C | GRCh38 |
| NC_000023.10:g.153580599T>C , CM000685.1:g.153580599T>C | GRCh37 |
| NC_000023.9:g.153233793T>C | NCBI36 |
| NG_011506.1:g.27408A>G | |
| NG_011506.2:g.27408A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6695A>G | ENSP00000353467.4:p.Lys2232Arg | |
| ENST00000369850.10:c.6719A>G MANE Select | ENSP00000358866.3:p.Lys2240Arg | |
| ENST00000369856.8:c.6638A>G | ENSP00000358872.4:p.Lys2213Arg | |
| ENST00000422373.6:c.3500A>G | ENSP00000416926.2:p.Lys1167Arg | |
| ENST00000610817.5:c.6776A>G | ENSP00000480593.2:n.6776A>G | |
| ENST00000673639.2:c.280-3541A>G | ||
| ENST00000676696.1:c.6998A>G | ENSP00000503392.1:n.6998A>G | |
| ENST00000678304.1:n.1898A>G | ||
| ENST00000344736.8:c.6599A>G | ENSP00000358863.3:p.Lys2200Arg | |
| ENST00000360319.8:c.6695A>G | ENSP00000353467.4:p.Lys2232Arg | |
| ENST00000369850.7:c.6719A>G | ENSP00000358866.3:p.Lys2240Arg | |
| ENST00000369856.7:c.6638A>G | ENSP00000358872.4:p.Lys2213Arg | |
| ENST00000420627.5:c.6675A>G | ENSP00000408921.1:n.6675A>G | |
| ENST00000422373.5:c.6695A>G | ENSP00000416926.1:p.Lys2232Arg | |
| ENST00000444578.1:c.539A>G | ENSP00000397824.1:p.Lys180Arg | |
| ENST00000474358.5:n.352A>G | ||
| ENST00000490936.5:n.2708A>G | ||
| ENST00000498411.1:n.67+586A>G | ||
| ENST00000610817.4:c.5845-281A>G | ENSP00000480593.1:n.5845-281A>G | |
| NM_001110556.1:c.6719A>G | NP_001104026.1:p.Lys2240Arg | |
| NM_001456.3:c.6695A>G | NP_001447.2:p.Lys2232Arg | |
| XM_011531127.1:c.6623A>G | XP_011529429.1:p.Lys2208Arg | |
| XM_011531128.1:c.6599A>G | XP_011529430.1:p.Lys2200Arg | |
| XM_011531129.1:c.6545A>G | XP_011529431.1:p.Lys2182Arg | |
| XM_011531130.1:c.6521A>G | XP_011529432.1:p.Lys2174Arg | |
| XM_011531131.1:c.6518A>G | XP_011529433.1:p.Lys2173Arg | |
| NM_001110556.2:c.6719A>G MANE Select | NP_001104026.1:p.Lys2240Arg | |
| NM_001456.4:c.6695A>G | NP_001447.2:p.Lys2232Arg |