Linked Data
ClinVar Variation Id:
2441332
ClinVar RCV Id:
RCV003147161
dbSNP Id:
rs766178166
ExAC:
15:80460423 G / A
gnomAD v2:
15-80460423-G-A
gnomAD v4:
15-80168081-G-A
COSMIC:
COSM5849878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80168081G>A , CM000677.2:g.80168081G>A | GRCh38 |
| NC_000015.9:g.80460423G>A , CM000677.1:g.80460423G>A | GRCh37 |
| NC_000015.8:g.78247478G>A | NCBI36 |
| NG_012833.1:g.20083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.560G>A | ||
| ENST00000684569.1:n.530G>A | ||
| ENST00000561421.6:c.485G>A MANE Select | ENSP00000453347.2:p.Arg162His | |
| ENST00000646551.1:n.2112G>A | ||
| ENST00000261755.9:c.485G>A | ENSP00000261755.5:p.Arg162His | |
| ENST00000407106.5:c.485G>A | ENSP00000385080.1:p.Arg162His | |
| ENST00000539156.5:c.275G>A | ENSP00000454271.1:p.Arg92His | |
| ENST00000558514.1:n.31G>A | ||
| ENST00000558627.1:n.413G>A | ||
| ENST00000561421.5:c.485G>A | ENSP00000453347.1:p.Arg162His | |
| NM_000137.2:c.485G>A | NP_000128.1:p.Arg162His | |
| XM_024449872.1:c.485G>A | XP_024305640.1:p.Arg162His | |
| NM_000137.4:c.485G>A MANE Select | NP_000128.1:p.Arg162His | |
| NM_001374377.1:c.485G>A | NP_001361306.1:p.Arg162His | |
| NM_001374380.1:c.485G>A | NP_001361309.1:p.Arg162His |