Linked Data
ClinVar Variation Id:
381708
dbSNP Id:
rs1057521150
gnomAD v4:
1-218436111-G-A
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218436111G>A , CM000663.2:g.218436111G>A | GRCh38 |
| NC_000001.10:g.218609453G>A , CM000663.1:g.218609453G>A | GRCh37 |
| NC_000001.9:g.216676076G>A | NCBI36 |
| NG_027721.1:g.95778G>A | |
| NG_027721.2:g.95778G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366930.9:c.896G>A MANE Select | ENSP00000355897.4:p.Arg299Gln | |
| ENST00000366929.4:c.980G>A | ENSP00000355896.4:p.Arg327Gln | |
| ENST00000366930.8:c.896G>A | ENSP00000355897.4:p.Arg299Gln | |
| ENST00000479322.1:n.380G>A | ||
| NM_001135599.2:c.980G>A | NP_001129071.1:p.Arg327Gln | |
| NM_003238.3:c.896G>A | NP_003229.1:p.Arg299Gln | |
| NM_001135599.3:c.980G>A | NP_001129071.1:p.Arg327Gln | |
| NM_003238.4:c.896G>A | NP_003229.1:p.Arg299Gln | |
| NR_138148.1:n.2199G>A | ||
| NR_138149.1:n.2283G>A | ||
| NM_003238.5:c.896G>A | NP_003229.1:p.Arg299Gln | |
| NM_003238.6:c.896G>A MANE Select | NP_003229.1:p.Arg299Gln | |
| NM_001135599.4:c.980G>A | NP_001129071.1:p.Arg327Gln | |
| NR_138148.2:n.2147G>A | ||
| NR_138149.2:n.2231G>A |