Linked Data
ClinVar Variation Id:
649452
ClinVar RCV Id:
RCV000804390
dbSNP Id:
rs188098799
ExAC:
8:27320816 G / A
gnomAD v2:
8-27320816-G-A
gnomAD v3:
8-27463299-G-A
gnomAD v4:
8-27463299-G-A
COSMIC:
COSM2787946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27463299G>A , CM000670.2:g.27463299G>A | GRCh38 |
| NC_000008.10:g.27320816G>A , CM000670.1:g.27320816G>A | GRCh37 |
| NC_000008.9:g.27376733G>A | NCBI36 |
| NG_015827.1:g.20998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407991.3:c.1144C>T MANE Select | ENSP00000385026.1:p.Arg382Trp | |
| ENST00000240132.7:c.1099C>T | ENSP00000240132.2:p.Arg367Trp | |
| ENST00000407991.2:c.1144C>T | ENSP00000385026.1:p.Arg382Trp | |
| ENST00000520600.1:n.290-1545C>T | ||
| ENST00000520933.7:c.1078C>T | ENSP00000429616.2:p.Arg360Trp | |
| ENST00000523695.5:c.*546C>T | ENSP00000430612.1:n.*546C>T | |
| NM_000742.3:c.1144C>T | NP_000733.2:p.Arg382Trp | |
| NM_001282455.1:c.1099C>T | NP_001269384.1:p.Arg367Trp | |
| XM_005273397.1:c.667C>T | XP_005273454.1:p.Arg223Trp | |
| XM_006716282.1:c.1144C>T | XP_006716345.1:p.Arg382Trp | |
| XM_011544388.1:c.1144C>T | XP_011542690.1:p.Arg382Trp | |
| XM_011544389.1:c.550C>T | XP_011542691.1:p.Arg184Trp | |
| NM_001347705.1:c.667C>T | NP_001334634.1:p.Arg223Trp | |
| NM_001347706.1:c.667C>T | NP_001334635.1:p.Arg223Trp | |
| NM_001347707.1:c.550C>T | NP_001334636.1:p.Arg184Trp | |
| NM_001347708.1:c.550C>T | NP_001334637.1:p.Arg184Trp | |
| XM_011544389.2:c.550C>T | XP_011542691.1:p.Arg184Trp | |
| NM_000742.4:c.1144C>T MANE Select | NP_000733.2:p.Arg382Trp | |
| NM_001282455.2:c.1099C>T | NP_001269384.1:p.Arg367Trp | |
| NM_001347705.2:c.667C>T | NP_001334634.1:p.Arg223Trp | |
| NM_001347706.2:c.667C>T | NP_001334635.1:p.Arg223Trp | |
| NM_001347707.2:c.550C>T | NP_001334636.1:p.Arg184Trp | |
| NM_001347708.2:c.550C>T | NP_001334637.1:p.Arg184Trp |