Linked Data
ClinVar Variation Id:
231450
dbSNP Id:
rs759292615
ExAC:
17:56809884 C / A
gnomAD v2:
17-56809884-C-A
gnomAD v4:
17-58732523-C-A
PubMed:
PMID:12442171
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58732523C>A , CM000679.2:g.58732523C>A | GRCh38 |
| NC_000017.10:g.56809884C>A , CM000679.1:g.56809884C>A | GRCh37 |
| NC_000017.9:g.54164883C>A | NCBI36 |
| NG_023199.1:g.44922C>A , LRG_314:g.44922C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.654C>A | ENSP00000464056.2:p.Cys218Ter | |
| ENST00000697680.1:c.*1969C>A | ENSP00000513392.1:n.*1969C>A | |
| ENST00000697681.1:c.*2166C>A | ENSP00000513393.1:n.*2166C>A | |
| ENST00000697683.1:c.*1941C>A | ENSP00000513395.1:n.*1941C>A | |
| ENST00000697685.1:c.*1702C>A | ENSP00000513396.1:n.*1702C>A | |
| ENST00000697686.1:c.776C>A | ENSP00000513397.1:p.Ala259Glu | |
| ENST00000697689.1:c.*1441-1595C>A | ENSP00000513398.1:n.*1441-1595C>A | |
| ENST00000697690.1:c.905-1595C>A | ENSP00000513399.1:n.905-1595C>A | |
| ENST00000697691.1:c.*977C>A | ENSP00000513400.1:n.*977C>A | |
| ENST00000697692.1:c.*1017C>A | ENSP00000513401.1:n.*1017C>A | |
| ENST00000697694.1:c.654C>A | ENSP00000513402.1:p.Cys218Ter | |
| ENST00000697695.1:n.1612C>A | ||
| ENST00000337432.9:c.1005C>A MANE Select | ENSP00000336701.4:p.Cys335Ter | |
| ENST00000337432.8:c.1005C>A | ENSP00000336701.4:p.Cys335Ter | |
| ENST00000413590.5:c.646C>A | ||
| ENST00000461706.1:n.192C>A | ||
| ENST00000475762.5:c.*1641C>A | ENSP00000432421.1:n.*1641C>A | |
| ENST00000482007.5:c.*433C>A | ENSP00000433332.1:n.*433C>A | |
| ENST00000487525.5:c.*581C>A | ENSP00000431637.1:n.*581C>A | |
| ENST00000578151.1:n.240-1595C>A | ||
| ENST00000581221.5:n.520C>A | ||
| ENST00000583539.5:c.1005C>A | ENSP00000463121.1:p.Cys335Ter | |
| ENST00000584804.1:c.239C>A | ENSP00000463658.1:p.Ala80Glu | |
| NM_058216.2:c.1005C>A | NP_478123.1:p.Cys335Ter | |
| NR_103872.1:n.909C>A | ||
| XM_006722001.2:c.1008C>A | XP_006722064.1:p.Cys336Ter | |
| XM_006722002.2:c.944C>A | XP_006722065.1:p.Ala315Glu | |
| XM_006722004.2:c.657C>A | XP_006722067.1:p.Cys219Ter | |
| XM_006722005.2:c.657C>A | XP_006722068.1:p.Cys219Ter | |
| XM_011525092.1:c.657C>A | XP_011523394.1:p.Cys219Ter | |
| XM_011525093.1:c.657C>A | XP_011523395.1:p.Cys219Ter | |
| XM_011525094.1:c.657C>A | XP_011523396.1:p.Cys219Ter | |
| XR_934513.1:n.1223C>A | ||
| XR_934514.1:n.1226C>A | ||
| XR_934886.1:n.149+5548G>T | ||
| XM_006722001.4:c.1008C>A | XP_006722064.1:p.Cys336Ter | |
| XM_006722002.4:c.944C>A | XP_006722065.1:p.Ala315Glu | |
| XM_006722004.3:c.657C>A | XP_006722067.1:p.Cys219Ter | |
| XM_006722005.3:c.657C>A | XP_006722068.1:p.Cys219Ter | |
| XM_011525092.2:c.657C>A | XP_011523394.1:p.Cys219Ter | |
| XM_011525093.2:c.657C>A | XP_011523395.1:p.Cys219Ter | |
| XM_011525094.2:c.657C>A | XP_011523396.1:p.Cys219Ter | |
| XM_017024914.1:c.654C>A | XP_016880403.1:p.Cys218Ter | |
| XM_017024915.1:c.654C>A | XP_016880404.1:p.Cys218Ter | |
| XM_017024916.1:c.654C>A | XP_016880405.1:p.Cys218Ter | |
| XM_017024917.1:c.654C>A | XP_016880406.1:p.Cys218Ter | |
| XM_017024918.2:c.654C>A | XP_016880407.1:p.Cys218Ter | |
| XM_017024919.1:c.593C>A | XP_016880408.1:p.Ala198Glu | |
| XR_934513.3:n.1654C>A | ||
| XR_934514.3:n.1657C>A | ||
| XR_934886.2:n.149+5548G>T | ||
| NM_058216.3:c.1005C>A MANE Select | NP_478123.1:p.Cys335Ter | |
| NR_103872.2:n.880C>A |