Linked Data
ClinVar Variation Id:
160358
ClinVar RCV Id:
RCV000148027
RCV000163558
RCV000464783
RCV000762143
RCV000765834
RCV001824123
RCV003474794
dbSNP Id:
rs200397144
ExAC:
5:251542 C / T
gnomAD v2:
5-251542-C-T
gnomAD v3:
5-251427-C-T
gnomAD v4:
5-251427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.251427C>T , CM000667.2:g.251427C>T | GRCh38 |
| NC_000005.9:g.251542C>T , CM000667.1:g.251542C>T | GRCh37 |
| NC_000005.8:g.304542C>T | NCBI36 |
| NG_012339.1:g.38187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1753C>T MANE Select | ENSP00000264932.6:p.Arg585Trp | |
| ENST00000651543.1:c.*486C>T | ENSP00000499215.1:n.*486C>T | |
| ENST00000264932.10:c.1753C>T | ENSP00000264932.6:p.Arg585Trp | |
| ENST00000503674.5:n.1925C>T | ||
| ENST00000504309.5:c.1552-2966C>T | ENSP00000426514.1:n.1552-2966C>T | |
| ENST00000505555.5:n.1793C>T | ||
| ENST00000507522.1:n.87C>T | ||
| ENST00000509082.1:n.85+384C>T | ||
| ENST00000509564.1:c.91C>T | ENSP00000421911.1:p.Arg31Trp | |
| ENST00000510361.5:c.1609C>T | ENSP00000427703.1:p.Arg537Trp | |
| ENST00000511810.5:n.2500C>T | ||
| ENST00000514027.5:n.1708C>T | ||
| ENST00000515752.5:n.1339C>T | ||
| ENST00000515815.5:c.207-2931C>T | ||
| ENST00000617470.4:c.1318C>T | ENSP00000484230.1:p.Arg440Trp | |
| NM_001294332.1:c.1609C>T | NP_001281261.1:p.Arg537Trp | |
| NM_004168.3:c.1753C>T | NP_004159.2:p.Arg585Trp | |
| XM_005248331.2:c.1552-2966C>T | XP_005248388.1:n.1552-2966C>T | |
| XM_011514072.1:c.1753C>T | XP_011512374.1:p.Arg585Trp | |
| XM_011514073.1:c.1552-2966C>T | XP_011512375.1:n.1552-2966C>T | |
| XR_925638.1:n.1886C>T | ||
| NM_001330758.1:c.1552-2966C>T | NP_001317687.1:n.1552-2966C>T | |
| XM_011514072.2:c.1753C>T | XP_011512374.1:p.Arg585Trp | |
| XM_011514073.2:c.1552-2966C>T | XP_011512375.1:n.1552-2966C>T | |
| XM_017009685.2:c.1753C>T | XP_016865174.1:p.Arg585Trp | |
| XM_024446143.1:c.1609C>T | XP_024301911.1:p.Arg537Trp | |
| XR_002956167.1:n.1800C>T | ||
| NM_004168.4:c.1753C>T MANE Select | NP_004159.2:p.Arg585Trp | |
| NM_001294332.2:c.1609C>T | NP_001281261.1:p.Arg537Trp | |
| NM_001330758.2:c.1552-2966C>T | NP_001317687.1:n.1552-2966C>T |