Linked Data
ClinVar Variation Id:
1352709
ClinVar RCV Id:
RCV002039898
dbSNP Id:
rs769490055
ExAC:
18:47110140 C / T
gnomAD v2:
18-47110140-C-T
gnomAD v3:
18-49583770-C-T
gnomAD v4:
18-49583770-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49583770C>T , CM000680.2:g.49583770C>T | GRCh38 |
| NC_000018.9:g.47110140C>T , CM000680.1:g.47110140C>T | GRCh37 |
| NC_000018.8:g.45364138C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.1372C>T MANE Select | ENSP00000261292.4:p.Arg458Trp | |
| ENST00000261292.8:c.1372C>T | ENSP00000261292.4:p.Arg458Trp | |
| ENST00000427224.6:c.1150C>T | ENSP00000387978.2:p.Arg384Trp | |
| NM_001308006.1:c.1150C>T | NP_001294935.1:p.Arg384Trp | |
| NM_006033.2:c.1372C>T | NP_006024.1:p.Arg458Trp | |
| NM_006033.3:c.1372C>T | NP_006024.1:p.Arg458Trp | |
| XM_005258390.1:c.1480C>T | XP_005258447.1:p.Arg494Trp | |
| XM_011526265.1:c.1258C>T | XP_011524567.1:p.Arg420Trp | |
| XM_011526267.1:c.1132C>T | XP_011524569.1:p.Arg378Trp | |
| XM_011526265.3:c.1258C>T | XP_011524567.1:p.Arg420Trp | |
| XM_017026095.1:c.781C>T | XP_016881584.1:p.Arg261Trp | |
| NM_006033.4:c.1372C>T MANE Select | NP_006024.1:p.Arg458Trp | |
| NM_001308006.2:c.1150C>T | NP_001294935.1:p.Arg384Trp |