Linked Data
ClinVar Variation Id:
225202
ClinVar RCV Id:
RCV000210847
dbSNP Id:
rs147390019
ExAC:
13:48619856 G / A
gnomAD v2:
13-48619856-G-A
gnomAD v3:
13-48045720-G-A
gnomAD v4:
13-48045720-G-A
COSMIC:
COSM2153396
PubMed:
PMID:26878724
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045720G>A , CM000675.2:g.48045720G>A | GRCh38 |
| NC_000013.10:g.48619856G>A , CM000675.1:g.48619856G>A | GRCh37 |
| NC_000013.9:g.47517857G>A | NCBI36 |
| NG_047021.1:g.13154G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.416G>A MANE Select | ENSP00000258662.1:p.Arg139His | |
| ENST00000258662.2:c.416G>A | ENSP00000258662.1:p.Arg139His | |
| NM_018283.2:c.416G>A | NP_060753.1:p.Arg139His | |
| NM_018283.3:c.416G>A | NP_060753.1:p.Arg139His | |
| NR_136687.1:n.596G>A | ||
| NR_136688.1:n.596G>A | ||
| NM_018283.4:c.416G>A MANE Select | NP_060753.1:p.Arg139His | |
| NR_136687.2:n.437G>A | ||
| NR_136688.2:n.437G>A |