Linked Data
ClinVar Variation Id:
1448752
dbSNP Id:
rs200428347
ExAC:
16:28948419 C / A
gnomAD v2:
16-28948419-C-A
gnomAD v3:
16-28937098-C-A
gnomAD v4:
16-28937098-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28937098C>A , CM000678.2:g.28937098C>A | GRCh38 |
| NC_000016.9:g.28948419C>A , CM000678.1:g.28948419C>A | GRCh37 |
| NC_000016.8:g.28855920C>A | NCBI36 |
| NG_007275.1:g.10160C>A , LRG_35:g.10160C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324662.8:c.1160C>A | ENSP00000313419.4:p.Ala387Glu | |
| ENST00000538922.8:c.1160C>A MANE Select | ENSP00000437940.2:p.Ala387Glu | |
| ENST00000324662.7:c.1160C>A | ENSP00000313419.3:p.Ala387Glu | |
| ENST00000538922.5:c.1160C>A | ENSP00000437940.1:p.Ala387Glu | |
| ENST00000565089.5:n.1494C>A | ||
| ENST00000567368.1:n.300C>A | ||
| ENST00000567541.5:c.1160C>A | ENSP00000456201.1:p.Ala387Glu | |
| ENST00000611258.4:c.1160C>A | ENSP00000481090.1:p.Ala387Glu | |
| NM_001178098.1:c.1160C>A | NP_001171569.1:p.Ala387Glu | |
| NM_001770.5:c.1160C>A , LRG_35t1:c.1160C>A | NP_001761.3:p.Ala387Glu | |
| XM_006721103.2:c.893C>A | XP_006721166.1:p.Ala298Glu | |
| XR_950871.1:n.1173C>A | ||
| XR_950872.1:n.1062C>A | ||
| XM_006721103.3:c.893C>A | XP_006721166.1:p.Ala298Glu | |
| XM_017023893.1:c.893C>A | XP_016879382.1:p.Ala298Glu | |
| XR_950871.2:n.1156C>A | ||
| NM_001178098.2:c.1160C>A | NP_001171569.1:p.Ala387Glu | |
| NM_001770.6:c.1160C>A MANE Select | NP_001761.3:p.Ala387Glu | |
| NM_001385732.1:c.893C>A | NP_001372661.1:p.Ala298Glu | |
| NR_169755.1:n.1502C>A |