Linked Data
ClinVar Variation Id:
2353376
ClinVar RCV Id:
RCV004192709
dbSNP Id:
rs773086930
ExAC:
15:64426897 G / A
gnomAD v2:
15-64426897-G-A
gnomAD v3:
15-64134698-G-A
gnomAD v4:
15-64134698-G-A
COSMIC:
COSM2255676
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64134698G>A , CM000677.2:g.64134698G>A | GRCh38 |
| NC_000015.9:g.64426897G>A , CM000677.1:g.64426897G>A | GRCh37 |
| NC_000015.8:g.62213950G>A | NCBI36 |
| NG_029708.1:g.43815G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559844.6:c.1256G>A MANE Select | ENSP00000453785.1:p.Arg419His | |
| ENST00000261889.9:c.1256G>A | ENSP00000261889.5:p.Arg419His | |
| ENST00000380285.7:c.*861G>A | ENSP00000369638.3:n.*861G>A | |
| ENST00000558040.5:c.310-10928G>A | ENSP00000452668.1:n.310-10928G>A | |
| ENST00000559401.1:n.305G>A | ||
| ENST00000559844.5:c.1256G>A | ENSP00000453785.1:p.Arg419His | |
| ENST00000559961.1:n.523G>A | ||
| ENST00000560260.5:c.*736G>A | ENSP00000452759.1:n.*736G>A | |
| ENST00000560829.5:c.602G>A | ENSP00000452651.1:p.Arg201His | |
| ENST00000561026.5:c.1061G>A | ENSP00000453567.1:p.Arg354His | |
| NM_001242933.1:c.1256G>A | NP_001229862.1:p.Arg419His | |
| NM_003099.4:c.1256G>A | NP_003090.2:p.Arg419His | |
| NM_148955.3:c.1061G>A | NP_683758.1:p.Arg354His | |
| XM_005254611.1:c.782G>A | XP_005254668.1:p.Arg261His | |
| XM_005254611.3:c.782G>A | XP_005254668.1:p.Arg261His | |
| XR_001751380.1:n.1429G>A | ||
| XR_001751381.1:n.1429G>A | ||
| NM_003099.5:c.1256G>A MANE Select | NP_003090.2:p.Arg419His | |
| NM_001242933.2:c.1256G>A | NP_001229862.1:p.Arg419His | |
| NM_148955.4:c.1061G>A | NP_683758.1:p.Arg354His |