Linked Data
dbSNP Id:
rs769157481
ExAC:
5:10256092 A / C
gnomAD v2:
5-10256092-A-C
gnomAD v4:
5-10255980-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10255980A>C , CM000667.2:g.10255980A>C | GRCh38 |
| NC_000005.9:g.10256092A>C , CM000667.1:g.10256092A>C | GRCh37 |
| NC_000005.8:g.10309092A>C | NCBI36 |
| NG_012160.1:g.10811A>C , LRG_361:g.10811A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.357A>C MANE Select | ENSP00000280326.4:p.Glu119Asp | |
| ENST00000280326.8:c.357A>C | ENSP00000280326.4:p.Glu119Asp | |
| ENST00000423695.6:n.128-2131A>C | ||
| ENST00000503026.5:c.294A>C | ENSP00000423318.1:p.Glu98Asp | |
| ENST00000503454.5:c.246A>C | ||
| ENST00000506600.1:c.78A>C | ENSP00000423052.1:p.Glu26Asp | |
| ENST00000511700.1:c.272A>C | ENSP00000423087.1:n.272A>C | |
| ENST00000512975.5:c.106-2131A>C | ENSP00000425751.1:n.106-2131A>C | |
| ENST00000515390.5:c.192A>C | ENSP00000426923.1:p.Glu64Asp | |
| ENST00000515676.5:c.243A>C | ENSP00000427297.1:p.Glu81Asp | |
| ENST00000625723.1:c.106-2131A>C | ENSP00000487128.1:n.106-2131A>C | |
| NM_001306153.1:c.294A>C | NP_001293082.1:p.Glu98Asp | |
| NM_001306154.1:c.192A>C | NP_001293083.1:p.Glu64Asp | |
| NM_001306155.1:c.78A>C | NP_001293084.1:p.Glu26Asp | |
| NM_001306156.1:c.243A>C | NP_001293085.1:p.Glu81Asp | |
| NM_012073.3:c.357A>C , LRG_361t1:c.357A>C | NP_036205.1:p.Glu119Asp | |
| NM_012073.4:c.357A>C | NP_036205.1:p.Glu119Asp | |
| NM_012073.5:c.357A>C MANE Select | NP_036205.1:p.Glu119Asp | |
| NM_001306154.2:c.192A>C | NP_001293083.1:p.Glu64Asp | |
| NM_001306155.2:c.78A>C | NP_001293084.1:p.Glu26Asp | |
| NM_001306156.2:c.243A>C | NP_001293085.1:p.Glu81Asp |