Linked Data
ClinVar Variation Id:
16800
dbSNP Id:
rs201947120
ExAC:
16:72057435 C / T
gnomAD v2:
16-72057435-C-T
gnomAD v3:
16-72023536-C-T
gnomAD v4:
16-72023536-C-T
COSMIC:
COSM290156
PubMed:
PMID:19915526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72023536C>T , CM000678.2:g.72023536C>T | GRCh38 |
| NC_000016.9:g.72057435C>T , CM000678.1:g.72057435C>T | GRCh37 |
| NC_000016.8:g.70614936C>T | NCBI36 |
| NG_016271.1:g.19793C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.1036C>T MANE Select | ENSP00000219240.4:p.Arg346Trp | |
| ENST00000219240.8:c.1036C>T | ENSP00000219240.4:p.Arg346Trp | |
| ENST00000571392.1:n.1700C>T | ||
| ENST00000572887.5:c.1030C>T | ENSP00000461848.1:p.Arg344Trp | |
| ENST00000574309.5:c.514-609C>T | ||
| NM_001361.4:c.1036C>T | NP_001352.2:p.Arg346Trp | |
| XM_005255827.2:c.952C>T | XP_005255884.1:p.Arg318Trp | |
| XM_005255828.3:c.628C>T | XP_005255885.1:p.Arg210Trp | |
| XM_005255829.2:c.607C>T | XP_005255886.1:p.Arg203Trp | |
| XM_005255827.4:c.952C>T | XP_005255884.1:p.Arg318Trp | |
| XM_005255829.4:c.607C>T | XP_005255886.1:p.Arg203Trp | |
| XM_017022990.2:c.709C>T | XP_016878479.1:p.Arg237Trp | |
| NM_001361.5:c.1036C>T MANE Select | NP_001352.2:p.Arg346Trp |