Linked Data
ClinVar Variation Id:
994945
ClinVar RCV Id:
RCV001288728
dbSNP Id:
rs200879722
ExAC:
19:54393264 C / T
gnomAD v2:
19-54393264-C-T
gnomAD v3:
19-53890010-C-T
gnomAD v4:
19-53890010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53890010C>T , CM000681.2:g.53890010C>T | GRCh38 |
| NC_000019.9:g.54393264C>T , CM000681.1:g.54393264C>T | GRCh37 |
| NC_000019.8:g.59085076C>T | NCBI36 |
| NG_009114.1:g.12798C>T , LRG_669:g.12798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.522C>T | ENSP00000507230.1:p.His174= | |
| ENST00000682268.1:n.820C>T | ||
| ENST00000682902.1:n.824C>T | ||
| ENST00000683513.1:c.522C>T | ENSP00000506809.1:p.His174= | |
| ENST00000263431.4:c.522C>T MANE Select | ENSP00000263431.3:p.His174= | |
| ENST00000263431.3:c.522C>T | ENSP00000263431.3:p.His174= | |
| ENST00000474397.5:c.138C>T | ENSP00000471271.1:p.His46= | |
| NM_001316329.1:c.522C>T | NP_001303258.1:p.His174= | |
| NM_002739.3:c.522C>T , LRG_669t1:c.522C>T | NP_002730.1:p.His174= | |
| NM_002739.4:c.522C>T | NP_002730.1:p.His174= | |
| NM_002739.5:c.522C>T MANE Select | NP_002730.1:p.His174= | |
| NM_001316329.2:c.522C>T | NP_001303258.1:p.His174= |