Linked Data
ClinVar Variation Id:
388568
ClinVar RCV Id:
RCV000426759
RCV001267684
RCV000779643
RCV000853394
RCV001258009
RCV001267453
RCV004554776
RCV002467447
dbSNP Id:
rs1057523157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47088172G>A , CM000665.2:g.47088172G>A | GRCh38 |
| NC_000003.11:g.47129662G>A , CM000665.1:g.47129662G>A | GRCh37 |
| NC_000003.10:g.47104666G>A | NCBI36 |
| NG_032091.1:g.80806C>T , LRG_775:g.80806C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638947.2:c.5086C>T | ENSP00000491413.2:p.Arg1696Trp | |
| ENST00000685005.1:c.5044-1858C>T | ENSP00000509568.1:n.5044-1858C>T | |
| ENST00000685237.1:n.1987-1858C>T | ||
| ENST00000685399.1:c.3098C>T | ||
| ENST00000685505.1:c.3159C>T | ||
| ENST00000686773.1:c.3098C>T | ||
| ENST00000686876.1:c.1934C>T | ||
| ENST00000688290.1:c.3098C>T | ||
| ENST00000690157.1:c.2234C>T | ||
| ENST00000690461.1:c.3382C>T | ENSP00000509352.1:p.Arg1128Trp | |
| ENST00000691544.1:c.274C>T | ENSP00000510710.1:p.Arg92Trp | |
| ENST00000691902.1:c.1855+17825C>T | ||
| ENST00000692362.1:n.1023C>T | ||
| ENST00000692883.1:c.3159C>T | ||
| ENST00000693321.1:c.3098C>T | ||
| ENST00000409792.4:c.5218C>T MANE Select | ENSP00000386759.3:p.Arg1740Trp | |
| ENST00000638947.1:c.868C>T | ENSP00000491413.1:p.Arg290Trp | |
| ENST00000330022.11:c.5038C>T | ||
| ENST00000409792.3:c.5218C>T | ENSP00000386759.3:p.Arg1740Trp | |
| ENST00000431180.5:c.4246C>T | ||
| ENST00000445387.5:c.4118C>T | ||
| NM_014159.6:c.5218C>T , LRG_775t1:c.5218C>T | NP_054878.5:p.Arg1740Trp | |
| XM_011533631.1:c.5296C>T | XP_011531933.1:p.Arg1766Trp | |
| XM_011533632.1:c.5242C>T | XP_011531934.1:p.Arg1748Trp | |
| XM_011533633.1:c.5221-1858C>T | XP_011531935.1:n.5221-1858C>T | |
| XM_011533634.1:c.5086C>T | XP_011531936.1:p.Arg1696Trp | |
| XR_940418.1:n.5311C>T | ||
| XR_940419.1:n.5399C>T | ||
| XR_940420.1:n.5399C>T | ||
| NM_001349370.1:c.5086C>T | NP_001336299.1:p.Arg1696Trp | |
| NR_146158.1:n.5271C>T | ||
| XM_011533632.3:c.5242C>T | XP_011531934.1:p.Arg1748Trp | |
| XM_024453487.1:c.5011-1858C>T | XP_024309255.1:n.5011-1858C>T | |
| XM_024453488.1:c.4786C>T | XP_024309256.1:p.Arg1596Trp | |
| XM_024453489.1:c.*11-1858C>T | XP_024309257.1:n.*11-1858C>T | |
| XR_001740131.2:n.4971C>T | ||
| XR_002959510.1:n.5147C>T | ||
| XR_002959511.1:n.5147C>T | ||
| XR_002959512.1:n.5147C>T | ||
| XR_002959513.1:n.5147C>T | ||
| XR_002959514.1:n.5147C>T | ||
| XR_002959515.1:n.5072-1858C>T | ||
| XR_002959516.1:n.5049C>T | ||
| XR_002959517.1:n.5049C>T | ||
| NM_001349370.2:c.5086C>T | NP_001336299.1:p.Arg1696Trp | |
| NR_146158.2:n.5407C>T | ||
| NM_001349370.3:c.5086C>T | NP_001336299.1:p.Arg1696Trp | |
| NM_014159.7:c.5218C>T MANE Select | NP_054878.5:p.Arg1740Trp | |
| NR_146158.3:n.5407C>T |