Linked Data
dbSNP Id:
rs777157181
ExAC:
17:29325784 T / A
gnomAD v2:
17-29325784-T-A
gnomAD v4:
17-30998766-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998766T>A , CM000679.2:g.30998766T>A | GRCh38 |
| NC_000017.10:g.29325784T>A , CM000679.1:g.29325784T>A | GRCh37 |
| NC_000017.9:g.26349910T>A | NCBI36 |
| NG_011701.1:g.32829T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.874T>A MANE Select | ENSP00000328340.5:p.Trp292Arg | |
| ENST00000324689.8:c.*78T>A | ENSP00000323693.4:n.*78T>A | |
| ENST00000328381.9:c.874T>A | ENSP00000328340.5:p.Trp292Arg | |
| ENST00000443677.6:c.*78T>A | ENSP00000411965.2:n.*78T>A | |
| ENST00000535306.6:c.*78T>A | ENSP00000440470.2:n.*78T>A | |
| NM_001184992.1:c.*78T>A | NP_001171921.1:n.*78T>A | |
| NM_032322.3:c.874T>A | NP_115698.3:p.Trp292Arg | |
| NM_197939.1:c.*78T>A | NP_922921.1:n.*78T>A | |
| XM_005258043.3:c.331T>A | XP_005258100.1:p.Trp111Arg | |
| XM_006722138.2:c.553T>A | XP_006722201.1:p.Trp185Arg | |
| XM_017025223.1:c.331T>A | XP_016880712.1:p.Trp111Arg | |
| XM_024451000.1:c.331T>A | XP_024306768.1:p.Trp111Arg | |
| XM_024451001.1:c.331T>A | XP_024306769.1:p.Trp111Arg | |
| XR_002958077.1:n.1142T>A | ||
| NM_032322.4:c.874T>A MANE Select | NP_115698.3:p.Trp292Arg | |
| NM_001184992.2:c.*78T>A | NP_001171921.1:n.*78T>A | |
| NM_197939.2:c.*78T>A | NP_922921.1:n.*78T>A |