Linked Data
dbSNP Id:
rs778768248
ExAC:
12:8759540 T / G
gnomAD v2:
12-8759540-T-G
gnomAD v4:
12-8606944-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8606944T>G , CM000674.2:g.8606944T>G | GRCh38 |
| NC_000012.11:g.8759540T>G , CM000674.1:g.8759540T>G | GRCh37 |
| NC_000012.10:g.8650807T>G | NCBI36 |
| NG_011588.1:g.10903A>C , LRG_17:g.10903A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537228.6:c.77A>C | ENSP00000445691.1:p.Glu26Ala | |
| ENST00000543081.6:c.77A>C | ENSP00000439103.2:p.Glu26Ala | |
| ENST00000544516.6:c.77A>C | ENSP00000439538.2:p.Glu26Ala | |
| ENST00000545576.2:n.186A>C | ||
| ENST00000696246.1:c.62A>C | ENSP00000512504.1:p.Glu21Ala | |
| ENST00000696271.1:n.197A>C | ||
| ENST00000696272.1:c.62A>C | ENSP00000512515.1:p.Glu21Ala | |
| ENST00000696273.1:c.110A>C | ENSP00000512516.1:p.Glu37Ala | |
| ENST00000229335.11:c.77A>C MANE Select | ENSP00000229335.6:p.Glu26Ala | |
| ENST00000229335.10:c.77A>C | ENSP00000229335.6:p.Glu26Ala | |
| ENST00000537228.5:c.77A>C | ENSP00000445691.1:p.Glu26Ala | |
| ENST00000543081.5:c.73A>C | ||
| ENST00000544516.5:c.73A>C | ||
| ENST00000545512.1:c.73A>C | ||
| ENST00000545576.1:n.111A>C | ||
| NM_020661.2:c.77A>C , LRG_17t1:c.77A>C | NP_065712.1:p.Glu26Ala | |
| XM_011520772.1:c.77A>C | XP_011519074.1:p.Glu26Ala | |
| XM_011520773.1:c.77A>C | XP_011519075.1:p.Glu26Ala | |
| NM_001330343.1:c.77A>C | NP_001317272.1:p.Glu26Ala | |
| NM_020661.3:c.77A>C | NP_065712.1:p.Glu26Ala | |
| XM_011520773.2:c.77A>C | XP_011519075.1:p.Glu26Ala | |
| NM_020661.4:c.77A>C MANE Select | NP_065712.1:p.Glu26Ala | |
| NM_001330343.2:c.77A>C | NP_001317272.1:p.Glu26Ala |