Linked Data
ClinVar Variation Id:
421849
dbSNP Id:
rs1004772663
gnomAD v2:
X-153580342-T-C
gnomAD v4:
X-154351974-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351974T>C , CM000685.2:g.154351974T>C | GRCh38 |
| NC_000023.10:g.153580342T>C , CM000685.1:g.153580342T>C | GRCh37 |
| NC_000023.9:g.153233536T>C | NCBI36 |
| NG_011506.1:g.27665A>G | |
| NG_011506.2:g.27665A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6793A>G | ENSP00000353467.4:p.Ile2265Val | |
| ENST00000369850.10:c.6817A>G MANE Select | ENSP00000358866.3:p.Ile2273Val | |
| ENST00000369856.8:c.6736A>G | ENSP00000358872.4:p.Ile2246Val | |
| ENST00000422373.6:c.3598A>G | ENSP00000416926.2:p.Ile1200Val | |
| ENST00000610817.5:c.6874A>G | ENSP00000480593.2:n.6874A>G | |
| ENST00000673639.2:c.280-3284A>G | ||
| ENST00000676696.1:c.7096A>G | ENSP00000503392.1:n.7096A>G | |
| ENST00000678304.1:n.1996A>G | ||
| ENST00000344736.8:c.6697A>G | ENSP00000358863.3:p.Ile2233Val | |
| ENST00000360319.8:c.6793A>G | ENSP00000353467.4:p.Ile2265Val | |
| ENST00000369850.7:c.6817A>G | ENSP00000358866.3:p.Ile2273Val | |
| ENST00000369856.7:c.6736A>G | ENSP00000358872.4:p.Ile2246Val | |
| ENST00000420627.5:c.6773A>G | ENSP00000408921.1:n.6773A>G | |
| ENST00000422373.5:c.6793A>G | ENSP00000416926.1:p.Ile2265Val | |
| ENST00000444578.1:c.637A>G | ENSP00000397824.1:p.Ile213Val | |
| ENST00000474358.5:n.450A>G | ||
| ENST00000490936.5:n.2806A>G | ||
| ENST00000498411.1:n.67+843A>G | ||
| ENST00000610817.4:c.5845-24A>G | ENSP00000480593.1:n.5845-24A>G | |
| NM_001110556.1:c.6817A>G | NP_001104026.1:p.Ile2273Val | |
| NM_001456.3:c.6793A>G | NP_001447.2:p.Ile2265Val | |
| XM_011531127.1:c.6721A>G | XP_011529429.1:p.Ile2241Val | |
| XM_011531128.1:c.6697A>G | XP_011529430.1:p.Ile2233Val | |
| XM_011531129.1:c.6643A>G | XP_011529431.1:p.Ile2215Val | |
| XM_011531130.1:c.6619A>G | XP_011529432.1:p.Ile2207Val | |
| XM_011531131.1:c.6616A>G | XP_011529433.1:p.Ile2206Val | |
| NM_001110556.2:c.6817A>G MANE Select | NP_001104026.1:p.Ile2273Val | |
| NM_001456.4:c.6793A>G | NP_001447.2:p.Ile2265Val |