Linked Data
ClinVar Variation Id:
1405069
ClinVar RCV Id:
RCV001927897
dbSNP Id:
rs372061661
ExAC:
11:46391546 G / A
gnomAD v2:
11-46391546-G-A
gnomAD v3:
11-46369996-G-A
gnomAD v4:
11-46369996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46369996G>A , CM000673.2:g.46369996G>A | GRCh38 |
| NC_000011.9:g.46391546G>A , CM000673.1:g.46391546G>A | GRCh37 |
| NC_000011.8:g.46348122G>A | NCBI36 |
| NG_047092.1:g.42092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454345.6:c.1121G>A | ENSP00000412178.1:p.Arg374Gln | |
| ENST00000456247.7:c.554G>A MANE Select | ENSP00000395684.2:p.Arg185Gln | |
| ENST00000318201.12:c.501+446G>A | ENSP00000320340.8:n.501+446G>A | |
| ENST00000343674.10:c.605G>A | ENSP00000343065.6:p.Arg202Gln | |
| ENST00000421244.6:c.557G>A | ENSP00000391021.2:p.Arg186Gln | |
| ENST00000454345.5:c.1121G>A | ENSP00000412178.1:p.Arg374Gln | |
| ENST00000456247.6:c.554G>A | ENSP00000395684.2:p.Arg185Gln | |
| ENST00000524448.1:c.209G>A | ENSP00000435763.1:p.Arg70Gln | |
| ENST00000524984.5:c.*174G>A | ENSP00000437060.1:n.*174G>A | |
| ENST00000527911.5:c.557G>A | ENSP00000436291.1:p.Arg186Gln | |
| ENST00000528173.5:n.2176G>A | ||
| ENST00000528615.5:c.-110G>A | ENSP00000434719.1:n.-110G>A | |
| ENST00000531879.5:n.494+446G>A | ||
| ENST00000532868.6:c.569G>A | ENSP00000436273.2:p.Arg190Gln | |
| ENST00000533376.5:c.*109G>A | ENSP00000435435.1:n.*109G>A | |
| NM_001105540.1:c.1121G>A | NP_001099010.1:p.Arg374Gln | |
| NM_001199266.1:c.557G>A | NP_001186195.1:p.Arg186Gln | |
| NM_001199267.1:c.554G>A | NP_001186196.1:p.Arg185Gln | |
| NM_001199268.1:c.501+446G>A | NP_001186197.1:n.501+446G>A | |
| NM_003646.3:c.557G>A | NP_003637.2:p.Arg186Gln | |
| NM_201532.2:c.605G>A | NP_963290.1:p.Arg202Gln | |
| NM_201533.3:c.569G>A | NP_963291.2:p.Arg190Gln | |
| XM_005253181.3:c.608G>A | XP_005253238.1:p.Arg203Gln | |
| XM_005253182.3:c.572G>A | XP_005253239.1:p.Arg191Gln | |
| XM_006718354.1:c.1124G>A | XP_006718417.1:p.Arg375Gln | |
| XM_006718355.2:c.569G>A | XP_006718418.1:p.Arg190Gln | |
| XM_011520421.1:c.1197+446G>A | XP_011518723.1:n.1197+446G>A | |
| XM_011520422.1:c.516+446G>A | XP_011518724.1:n.516+446G>A | |
| XM_011520423.1:c.197G>A | XP_011518725.1:p.Arg66Gln | |
| XR_930918.1:n.4707G>A | ||
| XM_017018455.1:c.1298G>A | XP_016873944.1:p.Arg433Gln | |
| XM_017018456.1:c.1295G>A | XP_016873945.1:p.Arg432Gln | |
| XM_024448729.1:c.1298G>A | XP_024304497.1:p.Arg433Gln | |
| XM_024448730.1:c.1295G>A | XP_024304498.1:p.Arg432Gln | |
| XM_024448731.1:c.1242+446G>A | XP_024304499.1:n.1242+446G>A | |
| XM_024448732.1:c.1124G>A | XP_024304500.1:p.Arg375Gln | |
| XM_024448733.1:c.608G>A | XP_024304501.1:p.Arg203Gln | |
| XM_024448734.1:c.605G>A | XP_024304502.1:p.Arg202Gln | |
| XM_024448735.1:c.572G>A | XP_024304503.1:p.Arg191Gln | |
| XM_024448736.1:c.569G>A | XP_024304504.1:p.Arg190Gln | |
| XM_024448737.1:c.557G>A | XP_024304505.1:p.Arg186Gln | |
| XM_024448738.1:c.554G>A | XP_024304506.1:p.Arg185Gln | |
| XM_024448739.1:c.516+446G>A | XP_024304507.1:n.516+446G>A | |
| XM_024448740.1:c.516+446G>A | XP_024304508.1:n.516+446G>A | |
| XM_024448741.1:c.197G>A | XP_024304509.1:p.Arg66Gln | |
| XR_002957206.1:n.1409G>A | ||
| NM_001105540.2:c.1121G>A | NP_001099010.1:p.Arg374Gln | |
| NM_001199266.2:c.557G>A | NP_001186195.1:p.Arg186Gln | |
| NM_001199267.2:c.554G>A MANE Select | NP_001186196.1:p.Arg185Gln | |
| NM_001199268.2:c.501+446G>A | NP_001186197.1:n.501+446G>A | |
| NM_003646.4:c.557G>A | NP_003637.2:p.Arg186Gln | |
| NM_201532.3:c.605G>A | NP_963290.1:p.Arg202Gln |