Linked Data
ClinVar Variation Id:
42171
ClinVar RCV Id:
RCV000034998
dbSNP Id:
rs386134169
gnomAD v4:
19-53889905-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53889905C>A , CM000681.2:g.53889905C>A | GRCh38 |
| NC_000019.9:g.54393159C>A , CM000681.1:g.54393159C>A | GRCh37 |
| NC_000019.8:g.59084971C>A | NCBI36 |
| NG_009114.1:g.12693C>A , LRG_669:g.12693C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.417C>A | ENSP00000507230.1:p.His139Gln | |
| ENST00000682268.1:n.715C>A | ||
| ENST00000682902.1:n.719C>A | ||
| ENST00000683513.1:c.417C>A | ENSP00000506809.1:p.His139Gln | |
| ENST00000263431.4:c.417C>A MANE Select | ENSP00000263431.3:p.His139Gln | |
| ENST00000263431.3:c.417C>A | ENSP00000263431.3:p.His139Gln | |
| ENST00000419486.1:c.33C>A | ENSP00000387919.2:p.His11Gln | |
| ENST00000474397.5:c.33C>A | ENSP00000471271.1:p.His11Gln | |
| ENST00000479081.5:c.33C>A | ENSP00000471544.1:p.His11Gln | |
| NM_001316329.1:c.417C>A | NP_001303258.1:p.His139Gln | |
| NM_002739.3:c.417C>A , LRG_669t1:c.417C>A | NP_002730.1:p.His139Gln | |
| NM_002739.4:c.417C>A | NP_002730.1:p.His139Gln | |
| NM_002739.5:c.417C>A MANE Select | NP_002730.1:p.His139Gln | |
| NM_001316329.2:c.417C>A | NP_001303258.1:p.His139Gln |