Linked Data
ClinVar Variation Id:
508512
dbSNP Id:
rs142283145
ExAC:
1:231401099 G / A
gnomAD v2:
1-231401099-G-A
gnomAD v3:
1-231265353-G-A
gnomAD v4:
1-231265353-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231265353G>A , CM000663.2:g.231265353G>A | GRCh38 |
| NC_000001.10:g.231401099G>A , CM000663.1:g.231401099G>A | GRCh37 |
| NC_000001.9:g.229467722G>A | NCBI36 |
| NG_008240.1:g.29181G>A | |
| NG_008240.2:g.29181G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.629G>A MANE Select | ENSP00000355607.4:p.Arg210Gln | |
| ENST00000644483.1:c.*315G>A | ENSP00000496537.1:n.*315G>A | |
| ENST00000366647.8:c.629G>A | ENSP00000355607.4:p.Arg210Gln | |
| ENST00000416000.1:c.599G>A | ENSP00000411640.1:p.Arg200Gln | |
| ENST00000436239.5:c.446G>A | ENSP00000402811.1:p.Arg149Gln | |
| NM_001316350.1:c.446G>A | NP_001303279.1:p.Arg149Gln | |
| NM_014236.3:c.629G>A | NP_055051.1:p.Arg210Gln | |
| XM_005273313.3:c.626G>A | XP_005273370.1:p.Arg209Gln | |
| XM_011544303.1:c.302G>A | XP_011542605.1:p.Arg101Gln | |
| XM_011544304.1:c.302G>A | XP_011542606.1:p.Arg101Gln | |
| XM_005273313.4:c.626G>A | XP_005273370.1:p.Arg209Gln | |
| XM_011544303.3:c.302G>A | XP_011542605.1:p.Arg101Gln | |
| XM_011544304.2:c.302G>A | XP_011542606.1:p.Arg101Gln | |
| NM_014236.4:c.629G>A MANE Select | NP_055051.1:p.Arg210Gln | |
| NM_001316350.2:c.446G>A | NP_001303279.1:p.Arg149Gln |