Linked Data
dbSNP Id:
rs1804328
gnomAD v2:
17-41150818-C-A
gnomAD v3:
17-42998801-C-A
gnomAD v4:
17-42998801-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42998801C>A , CM000679.2:g.42998801C>A | GRCh38 |
| NC_000017.10:g.41150818C>A , CM000679.1:g.41150818C>A | GRCh37 |
| NC_000017.9:g.38404344C>A | NCBI36 |
| NG_053099.1:g.5529C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253788.12:c.51C>A MANE Select | ENSP00000253788.5:p.Arg17= | |
| ENST00000589913.6:c.51C>A | ENSP00000464813.1:p.Arg17= | |
| ENST00000590864.2:c.51C>A | ENSP00000467939.2:p.Arg17= | |
| ENST00000253788.9:c.51C>A | ENSP00000253788.4:p.Arg17= | |
| ENST00000587478.1:n.106C>A | ||
| ENST00000588830.1:c.51C>A | ENSP00000468468.1:p.Arg17= | |
| ENST00000589037.5:c.51C>A | ENSP00000467587.1:p.Arg17= | |
| ENST00000589913.5:c.51C>A | ENSP00000464813.1:p.Arg17= | |
| ENST00000593262.1:n.383C>A | ||
| NM_000988.3:c.51C>A | NP_000979.1:p.Arg17= | |
| NM_000988.5:c.51C>A MANE Select | NP_000979.1:p.Arg17= | |
| NM_001349921.1:c.51C>A | NP_001336850.1:p.Arg17= | |
| NM_001349922.1:c.51C>A | NP_001336851.1:p.Arg17= | |
| NR_146327.1:n.134C>A | ||
| NM_001349921.2:c.51C>A | NP_001336850.1:p.Arg17= | |
| NM_001349922.2:c.51C>A | NP_001336851.1:p.Arg17= | |
| NR_146327.2:n.106C>A |