Linked Data
ClinVar Variation Id:
2360572
ClinVar RCV Id:
RCV004203412
dbSNP Id:
rs545925009
gnomAD v2:
11-113270139-G-A
gnomAD v3:
11-113399417-G-A
gnomAD v4:
11-113399417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399417G>A , CM000673.2:g.113399417G>A | GRCh38 |
| NC_000011.9:g.113270139G>A , CM000673.1:g.113270139G>A | GRCh37 |
| NC_000011.8:g.112775349G>A | NCBI36 |
| NG_012976.1:g.16627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303941.4:c.1448G>A MANE Select | ENSP00000306678.3:p.Arg483His | |
| ENST00000303941.3:c.1448G>A | ENSP00000306678.3:p.Arg483His | |
| NM_178510.1:c.1448G>A | NP_848605.1:p.Arg483His | |
| XM_011542736.1:c.1481G>A | XP_011541038.1:p.Arg494His | |
| XM_011542737.1:c.1451G>A | XP_011541039.1:p.Arg484His | |
| XM_011542738.1:c.1259G>A | XP_011541040.1:p.Arg420His | |
| XM_011542736.2:c.1481G>A | XP_011541038.1:p.Arg494His | |
| XM_011542737.2:c.1451G>A | XP_011541039.1:p.Arg484His | |
| XM_011542738.2:c.1259G>A | XP_011541040.1:p.Arg420His | |
| XM_017017475.1:c.1478G>A | XP_016872964.1:p.Arg493His | |
| NM_178510.2:c.1448G>A MANE Select | NP_848605.1:p.Arg483His |