Linked Data
ClinVar Variation Id:
320197
dbSNP Id:
rs202017590
ExAC:
16:67974091 G / A
gnomAD v2:
16-67974091-G-A
gnomAD v3:
16-67940188-G-A
gnomAD v4:
16-67940188-G-A
MyVariant Identifiers:
chr16:g.67974091G>A (hg19)
chr16:g.67974091_67974102delinsAGGGCGTGGGCA (hg19)
chr16:g.67940188G>A (hg38)
PubMed:
PMID:21901787
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940188G>A , CM000678.2:g.67940188G>A | GRCh38 |
| NC_000016.9:g.67974091G>A , CM000678.1:g.67974091G>A | GRCh37 |
| NC_000016.8:g.66531592G>A | NCBI36 |
| NG_009778.1:g.8925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1039C>T MANE Select | ENSP00000264005.5:p.Arg347Cys | |
| ENST00000264005.9:c.1039C>T | ENSP00000264005.5:p.Arg347Cys | |
| ENST00000570369.5:c.156-114C>T | ||
| ENST00000573538.5:c.777C>T | ENSP00000463220.1:n.777C>T | |
| NM_000229.1:c.1039C>T | NP_000220.1:p.Arg347Cys | |
| NM_000229.2:c.1039C>T MANE Select | NP_000220.1:p.Arg347Cys |