Linked Data
ClinVar Variation Id:
229197
dbSNP Id:
rs146713867
ExAC:
11:110108314 T / G
gnomAD v2:
11-110108314-T-G
gnomAD v3:
11-110237589-T-G
gnomAD v4:
11-110237589-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110237589T>G , CM000673.2:g.110237589T>G | GRCh38 |
| NC_000011.9:g.110108314T>G , CM000673.1:g.110108314T>G | GRCh37 |
| NC_000011.8:g.109613524T>G | NCBI36 |
| NG_023044.1:g.64124A>C | |
| NG_023044.2:g.64124A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645495.2:c.1154A>C MANE Select | ENSP00000496503.2:p.Glu385Ala | |
| ENST00000645527.1:c.1154A>C | ENSP00000496121.1:p.Glu385Ala | |
| ENST00000646663.1:c.1154A>C | ENSP00000494693.1:p.Glu385Ala | |
| ENST00000647231.1:c.1154A>C | ENSP00000496414.1:p.Glu385Ala | |
| ENST00000343115.8:c.1154A>C | ENSP00000342830.4:p.Glu385Ala | |
| ENST00000405097.5:c.1154A>C | ENSP00000384136.1:p.Glu385Ala | |
| ENST00000528498.5:c.1154A>C | ENSP00000432112.1:p.Glu385Ala | |
| ENST00000528900.5:c.113A>C | ENSP00000433580.1:p.Glu38Ala | |
| ENST00000530085.2:n.164A>C | ||
| ENST00000530131.5:c.*624A>C | ENSP00000432829.1:n.*624A>C | |
| ENST00000530301.5:c.405-5585A>C | ENSP00000436277.1:n.405-5585A>C | |
| ENST00000530749.5:c.1154A>C | ENSP00000437301.1:p.Glu385Ala | |
| ENST00000532461.5:n.269A>C | ||
| ENST00000544551.5:c.746A>C | ENSP00000445826.1:p.Glu249Ala | |
| NM_001260492.1:c.1154A>C | NP_001247421.1:p.Glu385Ala | |
| NM_001260493.1:c.1154A>C | NP_001247422.1:p.Glu385Ala | |
| NM_001260494.1:c.746A>C | NP_001247423.1:p.Glu249Ala | |
| NM_001260495.1:c.113A>C | NP_001247424.1:p.Glu38Ala | |
| NM_001260496.1:c.405-5585A>C | NP_001247425.1:n.405-5585A>C | |
| NM_002906.3:c.1154A>C | NP_002897.1:p.Glu385Ala | |
| NM_001260492.2:c.1154A>C | NP_001247421.1:p.Glu385Ala | |
| NM_002906.4:c.1154A>C MANE Select | NP_002897.1:p.Glu385Ala | |
| NM_001260493.2:c.1154A>C | NP_001247422.1:p.Glu385Ala | |
| NM_001260494.2:c.746A>C | NP_001247423.1:p.Glu249Ala | |
| NM_001260495.2:c.113A>C | NP_001247424.1:p.Glu38Ala | |
| NM_001260496.2:c.405-5585A>C | NP_001247425.1:n.405-5585A>C |