Linked Data
ClinVar Variation Id:
302351
ClinVar RCV Id:
RCV000377287
dbSNP Id:
rs886047648
gnomAD v3:
11-110258150-T-C
gnomAD v4:
11-110258150-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110258150T>C , CM000673.2:g.110258150T>C | GRCh38 |
| NC_000011.9:g.110128875T>C , CM000673.1:g.110128875T>C | GRCh37 |
| NC_000011.8:g.109634085T>C | NCBI36 |
| NG_023044.1:g.43563A>G | |
| NG_023044.2:g.43563A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642511.1:c.465A>G | ||
| ENST00000645495.2:c.507A>G MANE Select | ENSP00000496503.2:p.Glu169= | |
| ENST00000645527.1:c.507A>G | ENSP00000496121.1:p.Glu169= | |
| ENST00000646663.1:c.507A>G | ENSP00000494693.1:p.Glu169= | |
| ENST00000647231.1:c.507A>G | ENSP00000496414.1:p.Glu169= | |
| ENST00000343115.8:c.507A>G | ENSP00000342830.4:p.Glu169= | |
| ENST00000405097.5:c.507A>G | ENSP00000384136.1:p.Glu169= | |
| ENST00000528498.5:c.507A>G | ENSP00000432112.1:p.Glu169= | |
| ENST00000528900.5:c.-82-10317A>G | ENSP00000433580.1:n.-82-10317A>G | |
| ENST00000529774.1:n.59A>G | ||
| ENST00000530131.5:c.136A>G | ENSP00000432829.1:p.Arg46Gly | |
| ENST00000530301.5:c.404+7A>G | ENSP00000436277.1:n.404+7A>G | |
| ENST00000530749.5:c.507A>G | ENSP00000437301.1:p.Glu169= | |
| ENST00000534683.1:c.-37A>G | ENSP00000431560.1:n.-37A>G | |
| ENST00000544551.5:c.99A>G | ENSP00000445826.1:p.Glu33= | |
| NM_001260492.1:c.507A>G | NP_001247421.1:p.Glu169= | |
| NM_001260493.1:c.507A>G | NP_001247422.1:p.Glu169= | |
| NM_001260494.1:c.99A>G | NP_001247423.1:p.Glu33= | |
| NM_001260495.1:c.-82-10317A>G | NP_001247424.1:n.-82-10317A>G | |
| NM_001260496.1:c.404+7A>G | NP_001247425.1:n.404+7A>G | |
| NM_002906.3:c.507A>G | NP_002897.1:p.Glu169= | |
| NM_001260492.2:c.507A>G | NP_001247421.1:p.Glu169= | |
| NM_002906.4:c.507A>G MANE Select | NP_002897.1:p.Glu169= | |
| NM_001260493.2:c.507A>G | NP_001247422.1:p.Glu169= | |
| NM_001260494.2:c.99A>G | NP_001247423.1:p.Glu33= | |
| NM_001260495.2:c.-82-10317A>G | NP_001247424.1:n.-82-10317A>G | |
| NM_001260496.2:c.404+7A>G | NP_001247425.1:n.404+7A>G |