Linked Data
ClinVar Variation Id:
379247
dbSNP Id:
rs72552281
gnomAD v2:
6-24503578-G-A
gnomAD v3:
6-24503350-G-A
gnomAD v4:
6-24503350-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503350G>A , CM000668.2:g.24503350G>A | GRCh38 |
| NC_000006.11:g.24503578G>A , CM000668.1:g.24503578G>A | GRCh37 |
| NC_000006.10:g.24611557G>A | NCBI36 |
| NG_008161.1:g.13382G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357578.8:c.526G>A MANE Select | ENSP00000350191.3:p.Gly176Arg | |
| ENST00000672352.1:c.289G>A | ENSP00000500876.1:p.Gly97Arg | |
| ENST00000672557.1:c.444G>A | ||
| ENST00000672652.1:c.447G>A | ||
| ENST00000675422.1:n.1286G>A | ||
| ENST00000348925.2:c.526G>A | ENSP00000314649.3:p.Gly176Arg | |
| ENST00000357578.7:c.526G>A | ENSP00000350191.3:p.Gly176Arg | |
| ENST00000491546.5:c.442G>A | ENSP00000417687.1:p.Gly148Arg | |
| NM_001080.3:c.526G>A MANE Select | NP_001071.1:p.Gly176Arg | |
| NM_170740.1:c.526G>A | NP_733936.1:p.Gly176Arg | |
| NM_001368954.1:c.526G>A | NP_001355883.1:p.Gly176Arg |