Linked Data
dbSNP Id:
rs1214402335
gnomAD v2:
1-101005475-A-G
gnomAD v3:
1-100539919-A-G
gnomAD v4:
1-100539919-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539919A>G , CM000663.2:g.100539919A>G | GRCh38 |
| NC_000001.10:g.101005475A>G , CM000663.1:g.101005475A>G | GRCh37 |
| NC_000001.9:g.100778063A>G | NCBI36 |
| NG_053134.1:g.6748A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.953A>G MANE Select | ENSP00000314223.4:p.Gln318Arg | |
| ENST00000315033.4:c.953A>G | ENSP00000314223.4:p.Gln318Arg | |
| NM_022049.2:c.953A>G | NP_071332.2:p.Gln318Arg | |
| NM_022049.3:c.953A>G MANE Select | NP_071332.2:p.Gln318Arg |