Linked Data
ClinVar Variation Id:
456338
dbSNP Id:
rs141597706
ExAC:
16:3652237 G / A
gnomAD v2:
16-3652237-G-A
gnomAD v3:
16-3602236-G-A
gnomAD v4:
16-3602236-G-A
COSMIC:
COSM243256
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3602236G>A , CM000678.2:g.3602236G>A | GRCh38 |
| NC_000016.9:g.3652237G>A , CM000678.1:g.3652237G>A | GRCh37 |
| NC_000016.8:g.3592238G>A | NCBI36 |
| NG_028123.1:g.14349C>T , LRG_503:g.14349C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697858.1:n.173C>T | ||
| ENST00000294008.4:c.832C>T MANE Select | ENSP00000294008.3:p.Arg278Trp | |
| ENST00000294008.3:c.832C>T | ENSP00000294008.3:p.Arg278Trp | |
| ENST00000466154.5:n.1127C>T | ||
| ENST00000486524.1:n.1460C>T | ||
| NM_032444.2:c.832C>T , LRG_503t1:c.832C>T | NP_115820.2:p.Arg278Trp | |
| XM_011522715.1:c.832C>T | XP_011521017.1:p.Arg278Trp | |
| NM_032444.3:c.832C>T | NP_115820.2:p.Arg278Trp | |
| XM_011522715.3:c.832C>T | XP_011521017.1:p.Arg278Trp | |
| XM_024450471.1:c.832C>T | XP_024306239.1:p.Arg278Trp | |
| NM_032444.4:c.832C>T MANE Select | NP_115820.2:p.Arg278Trp |