Linked Data
ClinVar Variation Id:
2101823
ClinVar RCV Id:
RCV003017099
dbSNP Id:
rs1475024999
gnomAD v3:
11-17553409-G-A
gnomAD v4:
11-17553409-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553409G>A , CM000673.2:g.17553409G>A | GRCh38 |
| NC_000011.9:g.17574956G>A , CM000673.1:g.17574956G>A | GRCh37 |
| NC_000011.8:g.17531532G>A | NCBI36 |
| NG_033191.1:g.11037G>A | |
| NG_033191.2:g.11037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.466G>A | ENSP00000382323.2:p.Gly156Arg | |
| ENST00000399397.6:c.430G>A MANE Select | ENSP00000382329.2:p.Gly144Arg | |
| ENST00000399391.6:c.466G>A | ENSP00000382323.2:p.Gly156Arg | |
| ENST00000399397.5:c.430G>A | ENSP00000382329.2:p.Gly144Arg | |
| ENST00000428619.1:c.247G>A | ENSP00000399057.2:p.Gly83Arg | |
| ENST00000498332.5:n.336G>A | ||
| NM_001277269.1:c.466G>A | NP_001264198.1:p.Gly156Arg | |
| NM_001292063.1:c.430G>A | NP_001278992.1:p.Gly144Arg | |
| NM_001277269.2:c.466G>A | NP_001264198.1:p.Gly156Arg | |
| NM_001292063.2:c.430G>A MANE Select | NP_001278992.1:p.Gly144Arg |