Linked Data
dbSNP Id:
rs772773926
ExAC:
1:179544765 C / T
gnomAD v2:
1-179544765-C-T
gnomAD v4:
1-179575630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179575630C>T , CM000663.2:g.179575630C>T | GRCh38 |
| NC_000001.10:g.179544765C>T , CM000663.1:g.179544765C>T | GRCh37 |
| NC_000001.9:g.177811388C>T | NCBI36 |
| NG_007535.1:g.5320G>A , LRG_887:g.5320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.235G>A MANE Select | ENSP00000356587.4:p.Glu79Lys | |
| ENST00000367615.8:c.235G>A | ENSP00000356587.4:p.Glu79Lys | |
| ENST00000367616.4:c.235G>A | ENSP00000356588.4:p.Glu79Lys | |
| NM_001297575.1:c.235G>A | NP_001284504.1:p.Glu79Lys | |
| NM_014625.3:c.235G>A , LRG_887t1:c.235G>A | NP_055440.1:p.Glu79Lys | |
| XM_005245483.2:c.235G>A | XP_005245540.1:p.Glu79Lys | |
| XM_006711529.2:c.235G>A | XP_006711592.1:p.Glu79Lys | |
| XM_005245483.3:c.235G>A | XP_005245540.1:p.Glu79Lys | |
| XM_017002298.1:c.235G>A | XP_016857787.1:p.Glu79Lys | |
| XM_017002299.1:c.235G>A | XP_016857788.1:p.Glu79Lys | |
| NM_001297575.2:c.235G>A | NP_001284504.1:p.Glu79Lys | |
| NM_014625.4:c.235G>A MANE Select | NP_055440.1:p.Glu79Lys |