Linked Data
dbSNP Id:
rs772534228
ExAC:
6:24503630 A / G
gnomAD v2:
6-24503630-A-G
gnomAD v4:
6-24503402-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503402A>G , CM000668.2:g.24503402A>G | GRCh38 |
| NC_000006.11:g.24503630A>G , CM000668.1:g.24503630A>G | GRCh37 |
| NC_000006.10:g.24611609A>G | NCBI36 |
| NG_008161.1:g.13434A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.578A>G MANE Select | ENSP00000350191.3:p.Gln193Arg | |
| ENST00000672352.1:c.341A>G | ENSP00000500876.1:p.Gln114Arg | |
| ENST00000672557.1:c.496A>G | ||
| ENST00000672652.1:c.499A>G | ||
| ENST00000675422.1:n.1338A>G | ||
| ENST00000348925.2:c.578A>G | ENSP00000314649.3:p.Gln193Arg | |
| ENST00000357578.7:c.578A>G | ENSP00000350191.3:p.Gln193Arg | |
| ENST00000491546.5:c.494A>G | ENSP00000417687.1:p.Gln165Arg | |
| NM_001080.3:c.578A>G MANE Select | NP_001071.1:p.Gln193Arg | |
| NM_170740.1:c.578A>G | NP_733936.1:p.Gln193Arg | |
| NM_001368954.1:c.578A>G | NP_001355883.1:p.Gln193Arg |