Linked Data
ClinVar Variation Id:
218354
dbSNP Id:
rs864309515
gnomAD v2:
3-123071310-C-T
gnomAD v4:
3-123352463-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123352463C>T , CM000665.2:g.123352463C>T | GRCh38 |
| NC_000003.11:g.123071310C>T , CM000665.1:g.123071310C>T | GRCh37 |
| NC_000003.10:g.124554000C>T | NCBI36 |
| NG_033882.1:g.101083G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466617.6:c.-71G>A | ENSP00000420082.2:n.-71G>A | |
| ENST00000470367.2:c.218G>A | ENSP00000514541.1:p.Arg73Gln | |
| ENST00000483566.2:c.-71G>A | ENSP00000420252.2:n.-71G>A | |
| ENST00000699714.1:c.-71G>A | ENSP00000514539.1:n.-71G>A | |
| ENST00000699715.1:c.-71G>A | ENSP00000514540.1:n.-71G>A | |
| ENST00000699716.1:c.-71G>A | ENSP00000514542.1:n.-71G>A | |
| ENST00000699718.1:c.1253G>A | ENSP00000514543.1:p.Arg418Gln | |
| ENST00000462833.6:c.1253G>A MANE Select | ENSP00000419361.1:p.Arg418Gln | |
| ENST00000309879.9:c.203G>A | ENSP00000308685.5:p.Arg68Gln | |
| ENST00000462833.5:c.1253G>A | ENSP00000419361.1:p.Arg418Gln | |
| ENST00000466617.5:c.-71G>A | ENSP00000420082.1:n.-71G>A | |
| ENST00000470367.1:n.548G>A | ||
| ENST00000476455.1:c.157G>A | ENSP00000417789.1:p.Gly53Ser | |
| ENST00000483566.1:c.-71G>A | ENSP00000420252.1:n.-71G>A | |
| ENST00000491190.5:c.152G>A | ENSP00000418537.1:p.Arg51Gln | |
| NM_001199642.1:c.203G>A | NP_001186571.1:p.Arg68Gln | |
| NM_183357.2:c.1253G>A | NP_899200.1:p.Arg418Gln | |
| XM_005247077.2:c.1253G>A | XP_005247134.1:p.Arg418Gln | |
| XM_005247078.1:c.203G>A | XP_005247135.1:p.Arg68Gln | |
| XM_006713483.1:c.152G>A | XP_006713546.1:p.Arg51Gln | |
| XM_006713484.1:c.-71G>A | XP_006713547.1:n.-71G>A | |
| XM_011512358.1:c.1253G>A | XP_011510660.1:p.Arg418Gln | |
| XM_011512359.1:c.254G>A | XP_011510661.1:p.Arg85Gln | |
| XM_011512360.1:c.164G>A | XP_011510662.1:p.Arg55Gln | |
| XM_011512361.1:c.-71G>A | XP_011510663.1:n.-71G>A | |
| XM_005247077.4:c.1253G>A | XP_005247134.1:p.Arg418Gln | |
| XM_011512359.2:c.254G>A | XP_011510661.1:p.Arg85Gln | |
| XM_011512360.3:c.164G>A | XP_011510662.1:p.Arg55Gln | |
| XM_017005638.1:c.155G>A | XP_016861127.1:p.Arg52Gln | |
| XM_017005639.1:c.155G>A | XP_016861128.1:p.Arg52Gln | |
| NM_001378259.1:c.1253G>A | NP_001365188.1:p.Arg418Gln | |
| NM_183357.3:c.1253G>A MANE Select | NP_899200.1:p.Arg418Gln |