Linked Data
ClinVar Variation Id:
224994
dbSNP Id:
rs869312919
gnomAD v3:
3-81593952-C-T
gnomAD v4:
3-81593952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81593952C>T , CM000665.2:g.81593952C>T | GRCh38 |
| NC_000003.11:g.81643103C>T , CM000665.1:g.81643103C>T | GRCh37 |
| NC_000003.10:g.81725793C>T | NCBI36 |
| NG_011810.1:g.172849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1064G>A MANE Select | ENSP00000410833.2:p.Arg355His | |
| ENST00000429644.6:c.1064G>A | ENSP00000410833.2:p.Arg355His | |
| ENST00000489715.1:c.941G>A | ENSP00000419638.1:p.Arg314His | |
| NM_000158.3:c.1064G>A | NP_000149.3:p.Arg355His | |
| NM_000158.4:c.1064G>A MANE Select | NP_000149.4:p.Arg355His |