Linked Data
ClinVar Variation Id:
3668
dbSNP Id:
rs28940887
ExAC:
16:67976622 G / A
gnomAD v2:
16-67976622-G-A
gnomAD v3:
16-67942719-G-A
gnomAD v4:
16-67942719-G-A
COSMIC:
COSM2995943
PubMed:
PMID:8432868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942719G>A , CM000678.2:g.67942719G>A | GRCh38 |
| NC_000016.9:g.67976622G>A , CM000678.1:g.67976622G>A | GRCh37 |
| NC_000016.8:g.66534123G>A | NCBI36 |
| NG_009778.1:g.6394C>T | |
| NG_033098.1:g.30976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.475C>T MANE Select | ENSP00000264005.5:p.Arg159Trp | |
| ENST00000264005.9:c.475C>T | ENSP00000264005.5:p.Arg159Trp | |
| ENST00000570369.5:c.155+142C>T | ||
| ENST00000570980.1:c.259C>T | ENSP00000464651.1:p.Arg87Trp | |
| ENST00000573538.5:c.118C>T | ENSP00000463220.1:p.Arg40Trp | |
| ENST00000573846.1:n.89C>T | ||
| ENST00000575277.1:n.253C>T | ||
| ENST00000575467.5:c.*170C>T | ENSP00000460653.1:n.*170C>T | |
| NM_000229.1:c.475C>T | NP_000220.1:p.Arg159Trp | |
| NM_000229.2:c.475C>T MANE Select | NP_000220.1:p.Arg159Trp |