Linked Data
ClinVar Variation Id:
287541
dbSNP Id:
rs375956049
ExAC:
9:135786922 C / T
gnomAD v2:
9-135786922-C-T
gnomAD v4:
9-132911535-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132911535C>T , CM000671.2:g.132911535C>T | GRCh38 |
| NC_000009.11:g.135786922C>T , CM000671.1:g.135786922C>T | GRCh37 |
| NC_000009.10:g.134776743C>T | NCBI36 |
| NG_012386.1:g.38099G>A , LRG_486:g.38099G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.947G>A | ENSP00000496126.2:p.Arg316Gln | |
| ENST00000490179.4:c.947G>A | ENSP00000495533.2:p.Arg316Gln | |
| ENST00000642261.2:c.947G>A | ENSP00000494743.2:p.Arg316Gln | |
| ENST00000643275.2:c.947G>A | ENSP00000495598.2:p.Arg316Gln | |
| ENST00000643362.2:c.794G>A | ENSP00000496398.2:p.Arg265Gln | |
| ENST00000643625.2:c.947G>A | ENSP00000495546.2:p.Arg316Gln | |
| ENST00000643691.2:c.584G>A | ENSP00000494916.2:p.Arg195Gln | |
| ENST00000644184.2:c.947G>A | ENSP00000495428.2:p.Arg316Gln | |
| ENST00000645129.2:c.794G>A | ENSP00000493639.2:p.Arg265Gln | |
| ENST00000646440.2:c.947G>A | ENSP00000495830.2:p.Arg316Gln | |
| ENST00000647078.2:c.947G>A | ENSP00000496066.1:p.Arg316Gln | |
| ENST00000298552.9:c.947G>A MANE Select | ENSP00000298552.3:p.Arg316Gln | |
| ENST00000403810.6:c.947G>A | ENSP00000386093.1:p.Arg316Gln | |
| ENST00000493467.6:n.221G>A | ||
| ENST00000642344.1:c.*688G>A | ENSP00000494847.1:n.*688G>A | |
| ENST00000642617.1:c.947G>A | ENSP00000493773.1:p.Arg316Gln | |
| ENST00000642627.1:c.947G>A | ENSP00000496772.1:p.Arg316Gln | |
| ENST00000642646.1:c.947G>A | ENSP00000496292.1:p.Arg316Gln | |
| ENST00000642745.1:c.947G>A | ENSP00000493963.1:p.Arg316Gln | |
| ENST00000642811.1:c.*717G>A | ENSP00000495554.1:n.*717G>A | |
| ENST00000642854.1:c.*732G>A | ENSP00000494639.1:n.*732G>A | |
| ENST00000643072.1:c.794G>A | ENSP00000496691.1:p.Arg265Gln | |
| ENST00000643362.1:c.794G>A | ENSP00000496398.1:p.Arg265Gln | |
| ENST00000643583.1:c.947G>A | ENSP00000494685.1:p.Arg316Gln | |
| ENST00000643691.1:c.584G>A | ENSP00000494916.1:p.Arg195Gln | |
| ENST00000643875.1:c.947G>A | ENSP00000495158.1:p.Arg316Gln | |
| ENST00000644097.1:c.947G>A | ENSP00000494682.1:p.Arg316Gln | |
| ENST00000644255.1:c.*717G>A | ENSP00000493608.1:n.*717G>A | |
| ENST00000644319.1:n.674G>A | ||
| ENST00000644997.1:c.*604G>A | ENSP00000495654.1:n.*604G>A | |
| ENST00000645129.1:c.794G>A | ENSP00000493639.1:p.Arg265Gln | |
| ENST00000645150.1:c.947G>A | ENSP00000494365.1:p.Arg316Gln | |
| ENST00000645901.1:n.1150G>A | ||
| ENST00000646391.1:c.*717G>A | ENSP00000494104.1:n.*717G>A | |
| ENST00000646625.1:c.947G>A | ENSP00000496263.1:p.Arg316Gln | |
| ENST00000647078.1:c.947G>A | ENSP00000496066.1:p.Arg316Gln | |
| ENST00000647279.1:c.*186G>A | ENSP00000494502.1:n.*186G>A | |
| ENST00000647462.1:c.947G>A | ENSP00000495821.1:p.Arg316Gln | |
| ENST00000647506.1:n.1175G>A | ||
| ENST00000298552.7:c.947G>A | ENSP00000298552.3:p.Arg316Gln | |
| ENST00000403810.5:c.947G>A | ENSP00000386093.1:p.Arg316Gln | |
| ENST00000440111.6:c.947G>A | ENSP00000394524.2:p.Arg316Gln | |
| ENST00000493467.5:n.1143G>A | ||
| ENST00000545250.5:c.794G>A | ENSP00000444017.1:p.Arg265Gln | |
| NM_000368.4:c.947G>A , LRG_486t1:c.947G>A | NP_000359.1:p.Arg316Gln | |
| NM_001162426.1:c.947G>A | NP_001155898.1:p.Arg316Gln | |
| NM_001162427.1:c.794G>A | NP_001155899.1:p.Arg265Gln | |
| XM_005272211.1:c.947G>A | XP_005272268.1:p.Arg316Gln | |
| XM_006717271.1:c.947G>A | XP_006717334.1:p.Arg316Gln | |
| XM_006717272.2:c.947G>A | XP_006717335.1:p.Arg316Gln | |
| XM_011518979.1:c.947G>A | XP_011517281.1:p.Arg316Gln | |
| NM_001362177.1:c.584G>A | NP_001349106.1:p.Arg195Gln | |
| XM_011518979.2:c.947G>A | XP_011517281.1:p.Arg316Gln | |
| XM_017015096.1:c.947G>A | XP_016870585.1:p.Arg316Gln | |
| XM_017015097.1:c.947G>A | XP_016870586.1:p.Arg316Gln | |
| XM_017015098.1:c.947G>A | XP_016870587.1:p.Arg316Gln | |
| XM_017015100.1:c.584G>A | XP_016870589.1:p.Arg195Gln | |
| XM_017015101.1:c.584G>A | XP_016870590.1:p.Arg195Gln | |
| NM_000368.5:c.947G>A MANE Select | NP_000359.1:p.Arg316Gln | |
| NM_001162426.2:c.947G>A | NP_001155898.1:p.Arg316Gln | |
| NM_001162427.2:c.794G>A | NP_001155899.1:p.Arg265Gln | |
| NM_001362177.2:c.584G>A | NP_001349106.1:p.Arg195Gln |