Linked Data
dbSNP Id:
rs1030501944
gnomAD v2:
22-42463178-C-G
gnomAD v3:
22-42067174-C-G
gnomAD v4:
22-42067174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42067174C>G , CM000684.2:g.42067174C>G | GRCh38 |
| NC_000022.10:g.42463178C>G , CM000684.1:g.42463178C>G | GRCh37 |
| NC_000022.9:g.40793124C>G | NCBI36 |
| NG_009247.1:g.8669G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396398.8:c.441G>C MANE Select | ENSP00000379680.3:p.Glu147Asp | |
| ENST00000396398.7:c.441G>C | ENSP00000379680.3:p.Glu147Asp | |
| ENST00000402937.1:c.441G>C | ENSP00000384603.1:p.Glu147Asp | |
| ENST00000403363.5:c.441G>C | ENSP00000385283.1:p.Glu147Asp | |
| NM_000262.2:c.441G>C | NP_000253.1:p.Glu147Asp | |
| XM_005261615.3:c.441G>C | XP_005261672.1:p.Glu147Asp | |
| XM_005261616.3:c.441G>C | XP_005261673.1:p.Glu147Asp | |
| NM_001362848.1:c.441G>C | NP_001349777.1:p.Glu147Asp | |
| NM_001362850.1:c.441G>C | NP_001349779.1:p.Glu147Asp | |
| NM_000262.3:c.441G>C MANE Select | NP_000253.1:p.Glu147Asp |