Linked Data
ClinVar Variation Id:
11687
ClinVar RCV Id:
RCV000012453
dbSNP Id:
rs104894854
PubMed:
PMID:10814714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133753628A>T , CM000685.2:g.133753628A>T | GRCh38 |
| NC_000023.10:g.132887655A>T , CM000685.1:g.132887655A>T | GRCh37 |
| NC_000023.9:g.132715321A>T | NCBI36 |
| NG_009286.1:g.237012T>A , LRG_505:g.237012T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406757.3:c.75T>A | ||
| ENST00000684880.1:c.*474T>A | ENSP00000510280.1:n.*474T>A | |
| ENST00000689310.1:c.838T>A | ENSP00000510438.1:p.Trp280Arg | |
| ENST00000692084.1:c.80T>A | ||
| ENST00000370818.8:c.886T>A MANE Select | ENSP00000359854.3:p.Trp296Arg | |
| ENST00000394299.7:c.886T>A | ENSP00000377836.2:p.Trp296Arg | |
| ENST00000666673.1:n.80T>A | ||
| ENST00000370818.7:c.886T>A | ENSP00000359854.3:p.Trp296Arg | |
| ENST00000394299.6:c.886T>A | ENSP00000377836.2:p.Trp296Arg | |
| ENST00000406757.2:c.75T>A | ||
| ENST00000631057.2:c.724T>A | ENSP00000486325.1:p.Trp242Arg | |
| NM_001164617.1:c.886T>A | NP_001158089.1:p.Trp296Arg | |
| NM_001164618.1:c.838T>A | NP_001158090.1:p.Trp280Arg | |
| NM_001164619.1:c.724T>A | NP_001158091.1:p.Trp242Arg | |
| NM_004484.3:c.886T>A , LRG_505t1:c.886T>A | NP_004475.1:p.Trp296Arg | |
| XM_017029413.2:c.886T>A | XP_016884902.1:p.Trp296Arg | |
| NM_001164617.2:c.886T>A | NP_001158089.1:p.Trp296Arg | |
| NM_001164618.2:c.838T>A | NP_001158090.1:p.Trp280Arg | |
| NM_001164619.2:c.724T>A | NP_001158091.1:p.Trp242Arg | |
| NM_004484.4:c.886T>A MANE Select | NP_004475.1:p.Trp296Arg |