Linked Data
ClinVar Variation Id:
1304037
dbSNP Id:
rs1463041004
gnomAD v2:
7-150645590-C-A
gnomAD v4:
7-150948502-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948502C>A , CM000669.2:g.150948502C>A | GRCh38 |
| NC_000007.13:g.150645590C>A , CM000669.1:g.150645590C>A | GRCh37 |
| NC_000007.12:g.150276523C>A | NCBI36 |
| NG_008916.1:g.34425G>T , LRG_288:g.34425G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3467G>T | ||
| ENST00000262186.10:c.2634G>T MANE Select | ENSP00000262186.5:p.Glu878Asp | |
| ENST00000330883.9:c.1614G>T | ENSP00000328531.4:p.Glu538Asp | |
| ENST00000262186.9:c.2634G>T | ENSP00000262186.5:p.Glu878Asp | |
| ENST00000330883.8:c.1614G>T | ENSP00000328531.4:p.Glu538Asp | |
| NM_000238.3:c.2634G>T , LRG_288t1:c.2634G>T | NP_000229.1:p.Glu878Asp | |
| NM_172057.2:c.1614G>T , LRG_288t3:c.1614G>T | NP_742054.1:p.Glu538Asp | |
| XM_011516185.1:c.2334G>T | XP_011514487.1:p.Glu778Asp | |
| XM_011516186.1:c.2634G>T | XP_011514488.1:p.Glu878Asp | |
| XM_011516185.2:c.2334G>T | XP_011514487.1:p.Glu778Asp | |
| XM_011516186.3:c.2634G>T | XP_011514488.1:p.Glu878Asp | |
| XM_017012195.1:c.2484G>T | XP_016867684.1:p.Glu828Asp | |
| XM_017012196.1:c.2457G>T | XP_016867685.1:p.Glu819Asp | |
| NM_000238.4:c.2634G>T MANE Select | NP_000229.1:p.Glu878Asp | |
| NM_172057.3:c.1614G>T | NP_742054.1:p.Glu538Asp |