Linked Data
ClinVar Variation Id:
635381
ClinVar RCV Id:
RCV000786808
dbSNP Id:
rs1601402001
MutSpliceDB:
CA410934606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23801082G>A , CM000684.2:g.23801082G>A | GRCh38 |
| NC_000022.10:g.24143269G>A , CM000684.1:g.24143269G>A | GRCh37 |
| NC_000022.9:g.22473269G>A | NCBI36 |
| NG_009303.1:g.19120G>A , LRG_520:g.19120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263121.12:c.363-2213G>A | ENSP00000263121.8:n.363-2213G>A | |
| ENST00000344921.11:c.474G>A | ENSP00000340883.6:p.Trp158Ter | |
| ENST00000407082.4:c.336-2213G>A | ENSP00000385226.4:n.336-2213G>A | |
| ENST00000407422.8:c.473+1G>A | ENSP00000383984.3:n.473+1G>A | |
| ENST00000417137.6:c.501G>A | ENSP00000388489.2:p.Trp167Ter | |
| ENST00000491967.2:n.664G>A | ||
| ENST00000643421.1:n.468+1G>A | ||
| ENST00000644036.2:c.500+1G>A MANE Select | ENSP00000494049.2:n.500+1G>A | |
| ENST00000644462.1:c.336G>A | ENSP00000494283.1:p.Trp112Ter | |
| ENST00000644619.1:c.501G>A | ENSP00000494695.1:p.Trp167Ter | |
| ENST00000646421.1:n.2357G>A | ||
| ENST00000646723.1:n.489G>A | ||
| ENST00000646911.1:n.412+1G>A | ||
| ENST00000647057.1:c.231+1G>A | ENSP00000494757.1:n.231+1G>A | |
| ENST00000263121.11:c.500+1G>A | ENSP00000263121.7:n.500+1G>A | |
| ENST00000344921.10:c.474G>A | ENSP00000340883.6:p.Trp158Ter | |
| ENST00000407082.3:c.363-2213G>A | ENSP00000385226.3:n.363-2213G>A | |
| ENST00000407422.7:c.473+1G>A | ENSP00000383984.3:n.473+1G>A | |
| ENST00000417137.5:c.501G>A | ENSP00000388489.1:p.Trp167Ter | |
| ENST00000491967.1:n.227G>A | ||
| ENST00000634926.1:c.241+112G>A | ||
| ENST00000635578.1:c.214+112G>A | ||
| NM_001007468.1:c.473+1G>A | NP_001007469.1:n.473+1G>A | |
| NM_003073.3:c.500+1G>A , LRG_520t1:c.500+1G>A | NP_003064.2:n.500+1G>A | |
| XM_011530345.1:c.501G>A | XP_011528647.1:p.Trp167Ter | |
| XM_011530346.1:c.474G>A | XP_011528648.1:p.Trp158Ter | |
| NM_001007468.2:c.473+1G>A | NP_001007469.1:n.473+1G>A | |
| NM_001317946.1:c.474G>A | NP_001304875.1:p.Trp158Ter | |
| NM_001362877.1:c.501G>A | NP_001349806.1:p.Trp167Ter | |
| NM_003073.4:c.500+1G>A | NP_003064.2:n.500+1G>A | |
| NM_001007468.3:c.473+1G>A | NP_001007469.1:n.473+1G>A | |
| NM_001317946.2:c.474G>A | NP_001304875.1:p.Trp158Ter | |
| NM_001362877.2:c.501G>A | NP_001349806.1:p.Trp167Ter | |
| NM_003073.5:c.500+1G>A MANE Select | NP_003064.2:n.500+1G>A |