Linked Data
ClinVar Variation Id:
42174
ClinVar RCV Id:
RCV000035003
dbSNP Id:
rs386134157
gnomAD v4:
19-53882570-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53882570A>G , CM000681.2:g.53882570A>G | GRCh38 |
| NC_000019.9:g.54385824A>G , CM000681.1:g.54385824A>G | GRCh37 |
| NC_000019.8:g.59077636A>G | NCBI36 |
| NG_009114.1:g.5358A>G , LRG_669:g.5358A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.76A>G | ENSP00000507230.1:p.Arg26Gly | |
| ENST00000682268.1:n.374A>G | ||
| ENST00000682902.1:n.378A>G | ||
| ENST00000683513.1:c.76A>G | ENSP00000506809.1:p.Arg26Gly | |
| ENST00000263431.4:c.76A>G MANE Select | ENSP00000263431.3:p.Arg26Gly | |
| ENST00000263431.3:c.76A>G | ENSP00000263431.3:p.Arg26Gly | |
| ENST00000419486.1:c.-309A>G | ENSP00000387919.2:n.-309A>G | |
| ENST00000474397.5:c.-309A>G | ENSP00000471271.1:n.-309A>G | |
| ENST00000479081.5:c.-309A>G | ENSP00000471544.1:n.-309A>G | |
| NM_001316329.1:c.76A>G | NP_001303258.1:p.Arg26Gly | |
| NM_002739.3:c.76A>G , LRG_669t1:c.76A>G | NP_002730.1:p.Arg26Gly | |
| NM_002739.4:c.76A>G | NP_002730.1:p.Arg26Gly | |
| NM_002739.5:c.76A>G MANE Select | NP_002730.1:p.Arg26Gly | |
| NM_001316329.2:c.76A>G | NP_001303258.1:p.Arg26Gly |