Linked Data
ClinVar Variation Id:
16362
dbSNP Id:
rs121913088
ExAC:
4:155528084 C / T
gnomAD v2:
4-155528084-C-T
gnomAD v3:
4-154606932-C-T
gnomAD v4:
4-154606932-C-T
COSMIC:
COSM242526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154606932C>T , CM000666.2:g.154606932C>T | GRCh38 |
| NC_000004.11:g.155528084C>T , CM000666.1:g.155528084C>T | GRCh37 |
| NC_000004.10:g.155747534C>T | NCBI36 |
| NG_008834.1:g.10819G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336098.8:c.902G>A MANE Select | ENSP00000336829.3:p.Arg301His | |
| ENST00000336098.7:c.902G>A | ENSP00000336829.3:p.Arg301His | |
| ENST00000404648.7:c.902G>A | ENSP00000384860.3:p.Arg301His | |
| ENST00000405164.5:c.926G>A | ENSP00000384101.1:p.Arg309His | |
| ENST00000407946.5:c.926G>A | ENSP00000384552.1:p.Arg309His | |
| ENST00000465913.1:n.450G>A | ||
| ENST00000492082.5:n.1444G>A | ||
| NM_000509.4:c.902G>A | NP_000500.2:p.Arg301His | |
| NM_000509.5:c.902G>A | NP_000500.2:p.Arg301His | |
| NM_021870.2:c.902G>A | NP_068656.2:p.Arg301His | |
| NM_021870.3:c.902G>A MANE Select | NP_068656.2:p.Arg301His | |
| NM_000509.6:c.902G>A | NP_000500.2:p.Arg301His |