Linked Data
ClinVar Variation Id:
374994
ClinVar RCV Id:
RCV000416075
dbSNP Id:
rs1057519090
gnomAD v4:
13-110492105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110492105G>A , CM000675.2:g.110492105G>A | GRCh38 |
| NC_000013.10:g.111144452G>A , CM000675.1:g.111144452G>A | GRCh37 |
| NC_000013.9:g.109942453G>A | NCBI36 |
| NG_032137.1:g.189822G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360467.7:c.3490G>A MANE Select | ENSP00000353654.5:p.Gly1164Arg | |
| ENST00000650225.1:n.1145G>A | ||
| ENST00000360467.5:c.3490G>A | ENSP00000353654.5:p.Gly1164Arg | |
| NM_001846.2:c.3490G>A | NP_001837.2:p.Gly1164Arg | |
| NM_001846.3:c.3490G>A | NP_001837.2:p.Gly1164Arg | |
| NM_001846.4:c.3490G>A MANE Select | NP_001837.2:p.Gly1164Arg |