Linked Data
ClinVar Variation Id:
533584
dbSNP Id:
rs953454766
gnomAD v2:
X-153580590-G-C
gnomAD v3:
X-154352222-G-C
gnomAD v4:
X-154352222-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352222G>C , CM000685.2:g.154352222G>C | GRCh38 |
| NC_000023.10:g.153580590G>C , CM000685.1:g.153580590G>C | GRCh37 |
| NC_000023.9:g.153233784G>C | NCBI36 |
| NG_011506.1:g.27417C>G | |
| NG_011506.2:g.27417C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6704C>G | ENSP00000353467.4:p.Ala2235Gly | |
| ENST00000369850.10:c.6728C>G MANE Select | ENSP00000358866.3:p.Ala2243Gly | |
| ENST00000369856.8:c.6647C>G | ENSP00000358872.4:p.Ala2216Gly | |
| ENST00000422373.6:c.3509C>G | ENSP00000416926.2:p.Ala1170Gly | |
| ENST00000610817.5:c.6785C>G | ENSP00000480593.2:n.6785C>G | |
| ENST00000673639.2:c.280-3532C>G | ||
| ENST00000676696.1:c.7007C>G | ENSP00000503392.1:n.7007C>G | |
| ENST00000678304.1:n.1907C>G | ||
| ENST00000344736.8:c.6608C>G | ENSP00000358863.3:p.Ala2203Gly | |
| ENST00000360319.8:c.6704C>G | ENSP00000353467.4:p.Ala2235Gly | |
| ENST00000369850.7:c.6728C>G | ENSP00000358866.3:p.Ala2243Gly | |
| ENST00000369856.7:c.6647C>G | ENSP00000358872.4:p.Ala2216Gly | |
| ENST00000420627.5:c.6684C>G | ENSP00000408921.1:n.6684C>G | |
| ENST00000422373.5:c.6704C>G | ENSP00000416926.1:p.Ala2235Gly | |
| ENST00000444578.1:c.548C>G | ENSP00000397824.1:p.Ala183Gly | |
| ENST00000474358.5:n.361C>G | ||
| ENST00000490936.5:n.2717C>G | ||
| ENST00000498411.1:n.67+595C>G | ||
| ENST00000610817.4:c.5845-272C>G | ENSP00000480593.1:n.5845-272C>G | |
| NM_001110556.1:c.6728C>G | NP_001104026.1:p.Ala2243Gly | |
| NM_001456.3:c.6704C>G | NP_001447.2:p.Ala2235Gly | |
| XM_011531127.1:c.6632C>G | XP_011529429.1:p.Ala2211Gly | |
| XM_011531128.1:c.6608C>G | XP_011529430.1:p.Ala2203Gly | |
| XM_011531129.1:c.6554C>G | XP_011529431.1:p.Ala2185Gly | |
| XM_011531130.1:c.6530C>G | XP_011529432.1:p.Ala2177Gly | |
| XM_011531131.1:c.6527C>G | XP_011529433.1:p.Ala2176Gly | |
| NM_001110556.2:c.6728C>G MANE Select | NP_001104026.1:p.Ala2243Gly | |
| NM_001456.4:c.6704C>G | NP_001447.2:p.Ala2235Gly |