Linked Data
ClinVar Variation Id:
372158
dbSNP Id:
rs761533681
ExAC:
2:65248050 C / T
gnomAD v2:
2-65248050-C-T
gnomAD v3:
2-65020916-C-T
gnomAD v4:
2-65020916-C-T
COSMIC:
COSM3055211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.65020916C>T , CM000664.2:g.65020916C>T | GRCh38 |
| NC_000002.11:g.65248050C>T , CM000664.1:g.65248050C>T | GRCh37 |
| NC_000002.10:g.65101554C>T | NCBI36 |
| NG_053002.1:g.37472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234256.4:c.1369C>T MANE Select | ENSP00000234256.3:p.Arg457Trp | |
| ENST00000234256.3:c.1369C>T | ENSP00000234256.3:p.Arg457Trp | |
| ENST00000480594.1:n.2842C>T | ||
| ENST00000531327.5:c.475C>T | ENSP00000431942.1:p.Arg159Trp | |
| NM_001193493.1:c.475C>T | NP_001180422.1:p.Arg159Trp | |
| NM_003038.4:c.1369C>T | NP_003029.2:p.Arg457Trp | |
| XM_006712079.1:c.709C>T | XP_006712142.1:p.Arg237Trp | |
| NM_001348406.1:c.709C>T | NP_001335335.1:p.Arg237Trp | |
| NM_001348407.1:c.709C>T | NP_001335336.1:p.Arg237Trp | |
| XR_002959394.1:n.562+27038G>A | ||
| XR_002959395.1:n.621+27038G>A | ||
| XR_002959396.1:n.561+27038G>A | ||
| XR_002959397.1:n.302+27038G>A | ||
| XR_002959398.1:n.561+27038G>A | ||
| XR_002959399.1:n.558+27038G>A | ||
| NM_003038.5:c.1369C>T MANE Select | NP_003029.2:p.Arg457Trp | |
| NM_001193493.2:c.475C>T | NP_001180422.1:p.Arg159Trp | |
| NM_001348406.2:c.709C>T | NP_001335335.1:p.Arg237Trp | |
| NM_001348407.2:c.709C>T | NP_001335336.1:p.Arg237Trp |