Linked Data
ClinVar Variation Id:
2304761
ClinVar RCV Id:
RCV002883792
dbSNP Id:
rs765894120
ExAC:
6:43488130 A / C
gnomAD v2:
6-43488130-A-C
gnomAD v3:
6-43520392-A-C
gnomAD v4:
6-43520392-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43520392A>C , CM000668.2:g.43520392A>C | GRCh38 |
| NC_000006.11:g.43488130A>C , CM000668.1:g.43488130A>C | GRCh37 |
| NC_000006.10:g.43596108A>C | NCBI36 |
| NG_028283.1:g.8354A>C | |
| NG_028283.3:g.15691A>C | |
| NG_051658.1:g.60684T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.620A>C | ENSP00000496683.1:p.Glu207Ala | |
| ENST00000642195.1:c.620A>C MANE Select | ENSP00000496044.1:p.Glu207Ala | |
| ENST00000643341.1:c.620A>C | ENSP00000496018.1:p.Glu207Ala | |
| ENST00000643799.1:c.620A>C | ENSP00000494529.1:p.Glu207Ala | |
| ENST00000645141.1:c.*231A>C | ENSP00000496755.1:n.*231A>C | |
| ENST00000646188.1:c.455A>C | ENSP00000496001.1:p.Glu152Ala | |
| ENST00000646433.1:c.620A>C | ENSP00000494368.1:p.Glu207Ala | |
| ENST00000646700.1:c.620A>C | ENSP00000495521.1:p.Glu207Ala | |
| ENST00000304004.7:c.620A>C | ENSP00000307212.3:p.Glu207Ala | |
| ENST00000372344.6:c.620A>C | ENSP00000361419.2:p.Glu207Ala | |
| ENST00000372389.7:c.620A>C | ENSP00000361465.3:p.Glu207Ala | |
| ENST00000455605.2:n.913A>C | ||
| ENST00000481352.6:n.992A>C | ||
| ENST00000488601.6:n.859A>C | ||
| NM_203290.2:c.620A>C | NP_976035.1:p.Glu207Ala | |
| XM_005249491.1:c.620A>C | XP_005249548.1:p.Glu207Ala | |
| XM_011515000.1:c.620A>C | XP_011513302.1:p.Glu207Ala | |
| NM_001318876.1:c.620A>C | NP_001305805.1:p.Glu207Ala | |
| NM_001363658.1:c.620A>C | NP_001350587.1:p.Glu207Ala | |
| NM_203290.3:c.620A>C | NP_976035.1:p.Glu207Ala | |
| NM_203290.4:c.620A>C MANE Select | NP_976035.1:p.Glu207Ala | |
| NM_001363658.2:c.620A>C | NP_001350587.1:p.Glu207Ala | |
| NM_001318876.2:c.620A>C | NP_001305805.1:p.Glu207Ala |