Linked Data
ClinVar Variation Id:
253024
dbSNP Id:
rs775663363
ExAC:
16:3304457 C / T
gnomAD v2:
16-3304457-C-T
gnomAD v3:
16-3254457-C-T
gnomAD v4:
16-3254457-C-T
MyVariant Identifiers:
chr16:g.3304457C>T (hg19)
chr16:g.3304457_3304461delinsTGCAG (hg19)
chr16:g.3254457C>T (hg38)
PubMed:
PMID:19193696
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3254457C>T , CM000678.2:g.3254457C>T | GRCh38 |
| NC_000016.9:g.3304457C>T , CM000678.1:g.3304457C>T | GRCh37 |
| NC_000016.8:g.3244458C>T | NCBI36 |
| NG_007871.1:g.7171G>A , LRG_190:g.7171G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.611G>A MANE Select | ENSP00000219596.1:p.Arg204His | |
| ENST00000219596.5:c.611G>A | ENSP00000219596.1:p.Arg204His | |
| ENST00000339854.8:c.277+1854G>A | ENSP00000339639.4:n.277+1854G>A | |
| ENST00000536379.5:c.277+1854G>A | ENSP00000445079.1:n.277+1854G>A | |
| ENST00000536980.5:c.277+1854G>A | ENSP00000444178.1:n.277+1854G>A | |
| ENST00000537682.5:c.611G>A | ENSP00000438611.1:p.Arg204His | |
| ENST00000538326.5:c.611G>A | ENSP00000437486.1:p.Arg204His | |
| ENST00000539145.5:c.277+1854G>A | ENSP00000444471.1:n.277+1854G>A | |
| ENST00000541159.5:c.277+1854G>A | ENSP00000438711.1:n.277+1854G>A | |
| ENST00000542898.5:c.611G>A | ENSP00000444615.1:p.Arg204His | |
| ENST00000570511.5:c.611G>A | ENSP00000458312.1:p.Arg204His | |
| ENST00000572244.5:c.277+1854G>A | ENSP00000461186.1:n.277+1854G>A | |
| ENST00000574583.5:c.277+1854G>A | ENSP00000460269.1:n.277+1854G>A | |
| ENST00000576315.5:c.277+1854G>A | ENSP00000460551.1:n.277+1854G>A | |
| ENST00000621655.1:c.277+1854G>A | ENSP00000481436.1:n.277+1854G>A | |
| NM_000243.2:c.611G>A , LRG_190t1:c.611G>A | NP_000234.1:p.Arg204His | |
| NM_001198536.1:c.277+1854G>A | NP_001185465.1:n.277+1854G>A | |
| XM_017023236.2:c.611G>A | XP_016878725.1:p.Arg204His | |
| XR_001751903.1:n.800G>A | ||
| NM_000243.3:c.611G>A MANE Select | NP_000234.1:p.Arg204His | |
| NM_001198536.2:c.277+1854G>A | NP_001185465.2:n.277+1854G>A |