Linked Data
ClinVar Variation Id:
441106
dbSNP Id:
rs773745635
ExAC:
22:46751347 C / T
gnomAD v2:
22-46751347-C-T
gnomAD v3:
22-46355450-C-T
gnomAD v4:
22-46355450-C-T
COSMIC:
COSM3694120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46355450C>T , CM000684.2:g.46355450C>T | GRCh38 |
| NC_000022.10:g.46751347C>T , CM000684.1:g.46751347C>T | GRCh37 |
| NC_000022.9:g.45130011C>T | NCBI36 |
| NG_012173.1:g.25050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642923.1:c.775C>T | ENSP00000494255.1:p.Arg259Trp | |
| ENST00000643137.1:c.775C>T | ENSP00000495331.1:p.Arg259Trp | |
| ENST00000644006.1:c.*324C>T | ENSP00000493778.1:n.*324C>T | |
| ENST00000645190.1:c.880C>T MANE Select | ENSP00000496496.1:p.Arg294Trp | |
| ENST00000647301.1:c.*324C>T | ENSP00000496641.1:n.*324C>T | |
| ENST00000290846.8:c.880C>T | ENSP00000290846.4:p.Arg294Trp | |
| ENST00000381019.3:c.880C>T | ENSP00000370407.3:p.Arg294Trp | |
| ENST00000381021.7:c.*473C>T | ENSP00000370409.3:n.*473C>T | |
| ENST00000441818.5:c.*414C>T | ENSP00000393014.1:n.*414C>T | |
| ENST00000453630.5:c.*418C>T | ENSP00000398488.1:n.*418C>T | |
| ENST00000456595.5:c.*414C>T | ENSP00000413880.1:n.*414C>T | |
| ENST00000457572.5:c.*324C>T | ENSP00000407700.1:n.*324C>T | |
| ENST00000470831.1:n.741C>T | ||
| ENST00000485559.1:n.1934C>T | ||
| ENST00000491612.1:n.1046C>T | ||
| NM_001282782.1:c.538C>T | NP_001269711.1:p.Arg180Trp | |
| NM_001282783.1:c.460C>T | NP_001269712.1:p.Arg154Trp | |
| NM_001282784.1:c.460C>T | NP_001269713.1:p.Arg154Trp | |
| NM_001282785.1:c.880C>T | NP_001269714.1:p.Arg294Trp | |
| NM_018006.4:c.880C>T | NP_060476.2:p.Arg294Trp | |
| NR_104240.1:n.1189C>T | ||
| NR_104241.1:n.1082C>T | ||
| XM_005261678.1:c.484C>T | XP_005261735.1:p.Arg162Trp | |
| XM_005261681.1:c.484C>T | XP_005261738.1:p.Arg162Trp | |
| XM_011530271.1:c.775C>T | XP_011528573.1:p.Arg259Trp | |
| XM_011530272.1:c.779C>T | XP_011528574.1:p.Pro260Leu | |
| XM_011530273.1:c.779C>T | XP_011528575.1:p.Pro260Leu | |
| XM_011530274.1:c.538C>T | XP_011528576.1:p.Arg180Trp | |
| XM_011530275.1:c.484C>T | XP_011528577.1:p.Arg162Trp | |
| XM_011530271.2:c.775C>T | XP_011528573.1:p.Arg259Trp | |
| XM_011530272.2:c.779C>T | XP_011528574.1:p.Pro260Leu | |
| XM_011530273.2:c.779C>T | XP_011528575.1:p.Pro260Leu | |
| XM_011530274.2:c.538C>T | XP_011528576.1:p.Arg180Trp | |
| XM_024452260.1:c.674C>T | XP_024308028.1:p.Pro225Leu | |
| XR_001755261.2:n.3744C>T | ||
| XR_001755262.2:n.2168C>T | ||
| NM_018006.5:c.880C>T MANE Select | NP_060476.2:p.Arg294Trp | |
| NM_001282782.2:c.538C>T | NP_001269711.1:p.Arg180Trp | |
| NM_001282783.2:c.460C>T | NP_001269712.1:p.Arg154Trp | |
| NM_001282784.2:c.460C>T | NP_001269713.1:p.Arg154Trp | |
| NM_001282785.2:c.880C>T | NP_001269714.1:p.Arg294Trp | |
| NR_104240.2:n.876C>T | ||
| NR_104241.2:n.769C>T |