Linked Data
ClinVar Variation Id:
2749084
ClinVar RCV Id:
RCV003566297
dbSNP Id:
rs553201412
ExAC:
11:126145229 G / A
gnomAD v2:
11-126145229-G-A
gnomAD v3:
11-126275334-G-A
gnomAD v4:
11-126275334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275334G>A , CM000673.2:g.126275334G>A | GRCh38 |
| NC_000011.9:g.126145229G>A , CM000673.1:g.126145229G>A | GRCh37 |
| NC_000011.8:g.125650439G>A | NCBI36 |
| NG_028029.1:g.11295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1122G>A | ||
| ENST00000532101.6:n.741G>A | ||
| ENST00000532125.2:c.636G>A | ENSP00000434178.2:p.Glu212= | |
| ENST00000533839.6:c.86-460G>A | ENSP00000509952.1:n.86-460G>A | |
| ENST00000534011.6:n.931G>A | ||
| ENST00000685484.1:c.639G>A | ENSP00000510622.1:p.Glu213= | |
| ENST00000685601.1:c.639G>A | ENSP00000510603.1:p.Glu213= | |
| ENST00000685765.1:c.639G>A | ENSP00000509991.1:p.Glu213= | |
| ENST00000685844.1:c.*176G>A | ENSP00000509820.1:n.*176G>A | |
| ENST00000685857.1:n.1378G>A | ||
| ENST00000686242.1:c.438G>A | ENSP00000508950.1:n.438G>A | |
| ENST00000686888.1:c.*206G>A | ENSP00000509619.1:n.*206G>A | |
| ENST00000687699.1:c.763G>A | ENSP00000508878.1:n.763G>A | |
| ENST00000687786.1:n.2075G>A | ||
| ENST00000688100.1:n.1560G>A | ||
| ENST00000688588.1:c.639G>A | ENSP00000510802.1:p.Glu213= | |
| ENST00000688927.1:n.2850G>A | ||
| ENST00000689283.1:c.*302G>A | ENSP00000509050.1:n.*302G>A | |
| ENST00000689477.1:c.*532G>A | ENSP00000508945.1:n.*532G>A | |
| ENST00000689765.1:c.*169-37G>A | ENSP00000509625.1:n.*169-37G>A | |
| ENST00000690512.1:c.*490G>A | ENSP00000509793.1:n.*490G>A | |
| ENST00000692039.1:c.*437G>A | ENSP00000508821.1:n.*437G>A | |
| ENST00000692336.1:c.663G>A | ENSP00000508540.1:p.Glu221= | |
| ENST00000693133.1:n.1119G>A | ||
| ENST00000263578.10:c.639G>A MANE Select | ENSP00000263578.5:p.Glu213= | |
| ENST00000263578.9:c.639G>A | ENSP00000263578.5:p.Glu213= | |
| ENST00000524751.5:n.880G>A | ||
| ENST00000525083.5:n.359G>A | ||
| ENST00000525770.5:c.*271G>A | ENSP00000434739.1:n.*271G>A | |
| ENST00000527004.5:c.541G>A | ENSP00000436374.1:p.Gly181Arg | |
| ENST00000530642.1:n.1421G>A | ||
| ENST00000532101.5:n.862G>A | ||
| ENST00000532125.1:c.597G>A | ENSP00000434178.1:p.Glu199= | |
| ENST00000533395.5:n.372G>A | ||
| ENST00000533839.5:n.238-460G>A | ||
| ENST00000534011.5:n.691G>A | ||
| ENST00000534315.5:n.951G>A | ||
| NM_017547.3:c.639G>A | NP_060017.1:p.Glu213= | |
| NR_037647.1:n.585G>A | ||
| NR_037648.1:n.825G>A | ||
| XM_006718879.2:c.129G>A | XP_006718942.1:p.Glu43= | |
| XM_006718880.2:c.6G>A | XP_006718943.1:p.Glu2= | |
| XM_006718881.2:c.6G>A | XP_006718944.1:p.Glu2= | |
| XM_011542895.1:c.129G>A | XP_011541197.1:p.Glu43= | |
| XM_011542896.1:c.129G>A | XP_011541198.1:p.Glu43= | |
| XM_006718879.3:c.129G>A | XP_006718942.1:p.Glu43= | |
| XM_006718881.3:c.6G>A | XP_006718944.1:p.Glu2= | |
| XM_011542895.2:c.129G>A | XP_011541197.1:p.Glu43= | |
| XM_011542896.2:c.129G>A | XP_011541198.1:p.Glu43= | |
| XM_017018000.2:c.639G>A | XP_016873489.1:p.Glu213= | |
| XM_017018001.1:c.129G>A | XP_016873490.1:p.Glu43= | |
| XM_017018002.1:c.129G>A | XP_016873491.1:p.Glu43= | |
| XM_017018003.2:c.6G>A | XP_016873492.1:p.Glu2= | |
| XM_017018004.1:c.6G>A | XP_016873493.1:p.Glu2= | |
| XM_017018005.1:c.6G>A | XP_016873494.1:p.Glu2= | |
| XM_017018006.2:c.6G>A | XP_016873495.1:p.Glu2= | |
| NM_017547.4:c.639G>A MANE Select | NP_060017.1:p.Glu213= | |
| NR_037647.2:n.471G>A | ||
| NR_037648.2:n.816G>A |