Linked Data
ClinVar Variation Id:
487796
ClinVar RCV Id:
RCV000577850
dbSNP Id:
rs1555993293
COSMIC:
COSM22294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29655628G>A , CM000684.2:g.29655628G>A | GRCh38 |
| NC_000022.10:g.30051617G>A , CM000684.1:g.30051617G>A | GRCh37 |
| NC_000022.9:g.28381617G>A | NCBI36 |
| NG_009057.1:g.57073G>A , LRG_511:g.57073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.551G>A | ENSP00000354529.6:p.Trp184Ter | |
| ENST00000673312.2:c.*45G>A | ENSP00000500186.2:n.*45G>A | |
| ENST00000338641.10:c.551G>A MANE Select | ENSP00000344666.5:p.Trp184Ter | |
| ENST00000361166.9:c.104G>A | ENSP00000354529.5:p.Trp35Ter | |
| ENST00000672461.1:c.551G>A | ENSP00000500919.1:p.Trp184Ter | |
| ENST00000672805.1:c.*433G>A | ENSP00000500295.1:n.*433G>A | |
| ENST00000672896.1:c.551G>A | ENSP00000500117.1:p.Trp184Ter | |
| ENST00000673312.1:c.570G>A | ENSP00000500186.1:n.570G>A | |
| ENST00000334961.11:c.302G>A | ENSP00000335652.7:p.Trp101Ter | |
| ENST00000338641.8:c.551G>A | ENSP00000344666.4:p.Trp184Ter | |
| ENST00000353887.8:c.302G>A | ENSP00000340626.4:p.Trp101Ter | |
| ENST00000361166.8:c.551G>A | ENSP00000354529.4:p.Trp184Ter | |
| ENST00000361452.8:c.428G>A | ENSP00000354897.4:p.Trp143Ter | |
| ENST00000361676.8:c.425G>A | ENSP00000355183.4:p.Trp142Ter | |
| ENST00000397789.3:c.551G>A | ENSP00000380891.3:p.Trp184Ter | |
| ENST00000403435.5:c.551G>A | ENSP00000384029.1:p.Trp184Ter | |
| ENST00000403999.7:c.551G>A | ENSP00000384797.3:p.Trp184Ter | |
| ENST00000413209.6:c.447+13343G>A | ENSP00000409921.2:n.447+13343G>A | |
| ENST00000432151.5:c.199-5577G>A | ENSP00000395885.1:n.199-5577G>A | |
| NM_000268.3:c.551G>A , LRG_511t1:c.551G>A | NP_000259.1:p.Trp184Ter | |
| NM_016418.5:c.551G>A , LRG_511t2:c.551G>A | NP_057502.2:p.Trp184Ter | |
| NM_181825.2:c.551G>A | NP_861546.1:p.Trp184Ter | |
| NM_181828.2:c.425G>A | NP_861966.1:p.Trp142Ter | |
| NM_181829.2:c.428G>A | NP_861967.1:p.Trp143Ter | |
| NM_181830.2:c.302G>A | NP_861968.1:p.Trp101Ter | |
| NM_181831.2:c.302G>A | NP_861969.1:p.Trp101Ter | |
| NM_181832.2:c.551G>A | NP_861970.1:p.Trp184Ter | |
| NM_181833.2:c.447+13343G>A | NP_861971.1:n.447+13343G>A | |
| NR_156186.1:n.1110G>A | ||
| XM_017028809.2:c.437G>A | XP_016884298.1:p.Trp146Ter | |
| XM_017028810.1:c.437G>A | XP_016884299.1:p.Trp146Ter | |
| NM_000268.4:c.551G>A MANE Select | NP_000259.1:p.Trp184Ter | |
| NM_181825.3:c.551G>A | NP_861546.1:p.Trp184Ter | |
| NM_181828.3:c.425G>A | NP_861966.1:p.Trp142Ter | |
| NM_181829.3:c.428G>A | NP_861967.1:p.Trp143Ter | |
| NM_181830.3:c.302G>A | NP_861968.1:p.Trp101Ter | |
| NM_181831.3:c.302G>A | NP_861969.1:p.Trp101Ter | |
| NM_181832.3:c.551G>A | NP_861970.1:p.Trp184Ter | |
| NR_156186.2:n.1033G>A | ||
| NM_181833.3:c.447+13343G>A | NP_861971.1:n.447+13343G>A |