Linked Data
ClinVar Variation Id:
140849
ClinVar RCV Id:
RCV000129056
RCV000212943
RCV000203684
RCV000576579
RCV000590531
RCV000778126
RCV001554248
RCV002288621
dbSNP Id:
rs200293302
ExAC:
17:56780562 C / T
gnomAD v2:
17-56780562-C-T
gnomAD v4:
17-58703201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58703201C>T , CM000679.2:g.58703201C>T | GRCh38 |
| NC_000017.10:g.56780562C>T , CM000679.1:g.56780562C>T | GRCh37 |
| NC_000017.9:g.54135561C>T | NCBI36 |
| NG_023199.1:g.15600C>T , LRG_314:g.15600C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.226C>T | ENSP00000464056.2:p.Arg76Ter | |
| ENST00000697677.1:n.1658C>T | ||
| ENST00000697678.1:n.479C>T | ||
| ENST00000697679.1:n.1651C>T | ||
| ENST00000697680.1:c.*1441C>T | ENSP00000513392.1:n.*1441C>T | |
| ENST00000697681.1:c.*1593C>T | ENSP00000513393.1:n.*1593C>T | |
| ENST00000697683.1:c.*1441C>T | ENSP00000513395.1:n.*1441C>T | |
| ENST00000697684.1:n.637C>T | ||
| ENST00000697685.1:c.*1274C>T | ENSP00000513396.1:n.*1274C>T | |
| ENST00000697686.1:c.226C>T | ENSP00000513397.1:p.Arg76Ter | |
| ENST00000697687.1:n.456C>T | ||
| ENST00000697688.1:n.623C>T | ||
| ENST00000697689.1:c.*1113C>T | ENSP00000513398.1:n.*1113C>T | |
| ENST00000697690.1:c.577C>T | ENSP00000513399.1:p.Arg193Ter | |
| ENST00000697691.1:c.*549C>T | ENSP00000513400.1:n.*549C>T | |
| ENST00000697692.1:c.*589C>T | ENSP00000513401.1:n.*589C>T | |
| ENST00000697694.1:c.226C>T | ENSP00000513402.1:p.Arg76Ter | |
| ENST00000697695.1:n.1184C>T | ||
| ENST00000337432.9:c.577C>T MANE Select | ENSP00000336701.4:p.Arg193Ter | |
| ENST00000337432.8:c.577C>T | ENSP00000336701.4:p.Arg193Ter | |
| ENST00000413590.5:c.215C>T | ||
| ENST00000425173.5:c.373C>T | ENSP00000407282.1:p.Arg125Ter | |
| ENST00000461271.5:c.226C>T | ENSP00000464056.1:p.Arg76Ter | |
| ENST00000475762.5:c.*1280C>T | ENSP00000432421.1:n.*1280C>T | |
| ENST00000482007.5:c.*5C>T | ENSP00000433332.1:n.*5C>T | |
| ENST00000487525.5:c.*5C>T | ENSP00000431637.1:n.*5C>T | |
| ENST00000487921.5:n.489C>T | ||
| ENST00000583539.5:c.577C>T | ENSP00000463121.1:p.Arg193Ter | |
| ENST00000584617.5:c.299C>T | ||
| NM_058216.2:c.577C>T | NP_478123.1:p.Arg193Ter | |
| NR_103872.1:n.481C>T | ||
| XM_006722001.2:c.577C>T | XP_006722064.1:p.Arg193Ter | |
| XM_006722002.2:c.577C>T | XP_006722065.1:p.Arg193Ter | |
| XM_006722004.2:c.226C>T | XP_006722067.1:p.Arg76Ter | |
| XM_006722005.2:c.226C>T | XP_006722068.1:p.Arg76Ter | |
| XM_011525092.1:c.226C>T | XP_011523394.1:p.Arg76Ter | |
| XM_011525093.1:c.226C>T | XP_011523395.1:p.Arg76Ter | |
| XM_011525094.1:c.226C>T | XP_011523396.1:p.Arg76Ter | |
| XR_934513.1:n.650C>T | ||
| XR_934514.1:n.650C>T | ||
| XM_006722001.4:c.577C>T | XP_006722064.1:p.Arg193Ter | |
| XM_006722002.4:c.577C>T | XP_006722065.1:p.Arg193Ter | |
| XM_006722004.3:c.226C>T | XP_006722067.1:p.Arg76Ter | |
| XM_006722005.3:c.226C>T | XP_006722068.1:p.Arg76Ter | |
| XM_011525092.2:c.226C>T | XP_011523394.1:p.Arg76Ter | |
| XM_011525093.2:c.226C>T | XP_011523395.1:p.Arg76Ter | |
| XM_011525094.2:c.226C>T | XP_011523396.1:p.Arg76Ter | |
| XM_017024914.1:c.226C>T | XP_016880403.1:p.Arg76Ter | |
| XM_017024915.1:c.226C>T | XP_016880404.1:p.Arg76Ter | |
| XM_017024916.1:c.226C>T | XP_016880405.1:p.Arg76Ter | |
| XM_017024917.1:c.226C>T | XP_016880406.1:p.Arg76Ter | |
| XM_017024918.2:c.226C>T | XP_016880407.1:p.Arg76Ter | |
| XM_017024919.1:c.226C>T | XP_016880408.1:p.Arg76Ter | |
| XR_934513.3:n.1081C>T | ||
| XR_934514.3:n.1081C>T | ||
| NM_058216.3:c.577C>T MANE Select | NP_478123.1:p.Arg193Ter | |
| NR_103872.2:n.452C>T |