Linked Data
ClinVar Variation Id:
320437
dbSNP Id:
rs192923495
ExAC:
16:72057193 C / T
gnomAD v2:
16-72057193-C-T
gnomAD v3:
16-72023294-C-T
gnomAD v4:
16-72023294-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72023294C>T , CM000678.2:g.72023294C>T | GRCh38 |
| NC_000016.9:g.72057193C>T , CM000678.1:g.72057193C>T | GRCh37 |
| NC_000016.8:g.70614694C>T | NCBI36 |
| NG_016271.1:g.19551C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.949C>T MANE Select | ENSP00000219240.4:p.Arg317Trp | |
| ENST00000219240.8:c.949C>T | ENSP00000219240.4:p.Arg317Trp | |
| ENST00000571392.1:n.1614C>T | ||
| ENST00000572887.5:c.949C>T | ENSP00000461848.1:p.Arg317Trp | |
| ENST00000574309.5:c.514-851C>T | ||
| NM_001361.4:c.949C>T | NP_001352.2:p.Arg317Trp | |
| XM_005255827.2:c.865C>T | XP_005255884.1:p.Arg289Trp | |
| XM_005255828.3:c.541C>T | XP_005255885.1:p.Arg181Trp | |
| XM_005255829.2:c.520C>T | XP_005255886.1:p.Arg174Trp | |
| XM_005255827.4:c.865C>T | XP_005255884.1:p.Arg289Trp | |
| XM_005255829.4:c.520C>T | XP_005255886.1:p.Arg174Trp | |
| XM_017022990.2:c.622C>T | XP_016878479.1:p.Arg208Trp | |
| NM_001361.5:c.949C>T MANE Select | NP_001352.2:p.Arg317Trp |