Linked Data
ClinVar Variation Id:
2622660
ClinVar RCV Id:
RCV004360395
dbSNP Id:
rs200480939
gnomAD v2:
12-26217434-G-A
gnomAD v3:
12-26064501-G-A
gnomAD v4:
12-26064501-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26064501G>A , CM000674.2:g.26064501G>A | GRCh38 |
| NC_000012.11:g.26217434G>A , CM000674.1:g.26217434G>A | GRCh37 |
| NC_000012.10:g.26108701G>A | NCBI36 |
| NG_029077.1:g.110471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688511.1:c.107G>A | ENSP00000509001.1:p.Arg36Gln | |
| ENST00000689434.1:c.107G>A | ENSP00000509645.1:p.Arg36Gln | |
| ENST00000689635.1:c.107G>A MANE Select | ENSP00000510086.1:p.Arg36Gln | |
| ENST00000282884.13:c.107G>A | ENSP00000282884.9:p.Arg36Gln | |
| ENST00000381352.7:c.107G>A | ENSP00000370756.3:p.Arg36Gln | |
| ENST00000405154.6:c.107G>A | ENSP00000384491.1:p.Arg36Gln | |
| ENST00000535907.5:c.107G>A | ENSP00000442036.1:p.Arg36Gln | |
| ENST00000541218.5:c.107G>A | ENSP00000445970.1:p.Arg36Gln | |
| ENST00000541490.5:c.107G>A | ENSP00000443096.1:p.Arg36Gln | |
| ENST00000542004.5:c.107G>A | ENSP00000442485.1:p.Arg36Gln | |
| ENST00000542315.5:c.107G>A | ENSP00000441294.1:p.Arg36Gln | |
| ENST00000542865.5:c.107G>A | ENSP00000439839.1:p.Arg36Gln | |
| ENST00000545413.1:c.107G>A | ENSP00000443696.1:p.Arg36Gln | |
| ENST00000611440.1:c.107G>A | ENSP00000478107.1:p.Arg36Gln | |
| ENST00000615708.4:c.107G>A | ENSP00000481417.1:p.Arg36Gln | |
| NM_001164746.1:c.107G>A | NP_001158218.1:p.Arg36Gln | |
| NM_001164747.1:c.107G>A | NP_001158219.1:p.Arg36Gln | |
| NM_001164748.1:c.107G>A | NP_001158220.1:p.Arg36Gln | |
| NM_007211.4:c.107G>A | NP_009142.2:p.Arg36Gln | |
| XM_006719027.2:c.107G>A | XP_006719090.1:p.Arg36Gln | |
| XM_006719028.1:c.107G>A | XP_006719091.1:p.Arg36Gln | |
| XM_017018746.2:c.107G>A | XP_016874235.1:p.Arg36Gln | |
| XM_024448818.1:c.107G>A | XP_024304586.1:p.Arg36Gln | |
| XM_024448819.1:c.107G>A | XP_024304587.1:p.Arg36Gln | |
| XM_024448820.1:c.107G>A | XP_024304588.1:p.Arg36Gln | |
| XM_024448821.1:c.107G>A | XP_024304589.1:p.Arg36Gln | |
| XM_024448822.1:c.107G>A | XP_024304590.1:p.Arg36Gln | |
| NM_001164746.2:c.107G>A | NP_001158218.1:p.Arg36Gln | |
| NM_001164747.2:c.107G>A | NP_001158219.1:p.Arg36Gln | |
| NM_001164748.2:c.107G>A | NP_001158220.1:p.Arg36Gln | |
| NM_007211.5:c.107G>A | NP_009142.2:p.Arg36Gln | |
| NM_001394094.1:c.107G>A | NP_001381023.1:p.Arg36Gln | |
| NM_001394095.1:c.107G>A | NP_001381024.1:p.Arg36Gln | |
| NM_001394096.1:c.107G>A | NP_001381025.1:p.Arg36Gln | |
| NM_001394097.1:c.107G>A | NP_001381026.1:p.Arg36Gln | |
| NM_001394098.1:c.107G>A MANE Select | NP_001381027.1:p.Arg36Gln | |
| NM_001394099.1:c.107G>A | NP_001381028.1:p.Arg36Gln | |
| NM_001394100.1:c.107G>A | NP_001381029.1:p.Arg36Gln | |
| NM_001394101.1:c.107G>A | NP_001381030.1:p.Arg36Gln | |
| NM_001394102.1:c.107G>A | NP_001381031.1:p.Arg36Gln |