Linked Data
ClinVar Variation Id:
942101
ClinVar RCV Id:
RCV001212017
dbSNP Id:
rs553621405
ExAC:
17:45299200 C / T
gnomAD v2:
17-45299200-C-T
gnomAD v3:
17-47221834-C-T
gnomAD v4:
17-47221834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47221834C>T , CM000679.2:g.47221834C>T | GRCh38 |
| NC_000017.10:g.45299200C>T , CM000679.1:g.45299200C>T | GRCh37 |
| NC_000017.9:g.42654199C>T | NCBI36 |
| NG_052847.1:g.17818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354968.5:c.466C>T | ENSP00000347055.1:p.Arg156Trp | |
| ENST00000393450.5:c.466C>T MANE Select | ENSP00000377096.1:p.Arg156Trp | |
| ENST00000536623.6:c.466C>T | ENSP00000442375.2:p.Arg156Trp | |
| ENST00000570671.1:c.177C>T | ||
| ENST00000570772.5:c.*252C>T | ENSP00000458194.1:n.*252C>T | |
| ENST00000571981.5:c.*252C>T | ENSP00000459035.1:n.*252C>T | |
| ENST00000572316.5:c.466C>T | ENSP00000461570.1:p.Arg156Trp | |
| ENST00000573747.6:c.*68C>T | ENSP00000460734.1:n.*68C>T | |
| ENST00000576874.5:c.466C>T | ENSP00000458907.1:p.Arg156Trp | |
| NM_001002841.1:c.466C>T | NP_001002841.1:p.Arg156Trp | |
| NM_002476.2:c.466C>T MANE Select | NP_002467.1:p.Arg156Trp | |
| XM_005257391.3:c.466C>T | XP_005257448.1:p.Arg156Trp | |
| XM_011524838.1:c.466C>T | XP_011523140.1:p.Arg156Trp | |
| XM_011524839.1:c.256C>T | XP_011523141.1:p.Arg86Trp | |
| XM_005257391.5:c.466C>T | XP_005257448.1:p.Arg156Trp | |
| XM_011524839.2:c.559C>T | XP_011523141.2:p.Arg187Trp | |
| XM_017024683.1:c.559C>T | XP_016880172.1:p.Arg187Trp | |
| XM_024450766.1:c.559C>T | XP_024306534.1:p.Arg187Trp | |
| NM_001002841.2:c.466C>T | NP_001002841.1:p.Arg156Trp |