Linked Data
dbSNP Id:
rs747398768
ExAC:
6:31238046 T / C
gnomAD v2:
6-31238046-T-C
gnomAD v4:
6-31270269-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270269T>C , CM000668.2:g.31270269T>C | GRCh38 |
| NC_000006.11:g.31238046T>C , CM000668.1:g.31238046T>C | GRCh37 |
| NC_000006.10:g.31346025T>C | NCBI36 |
| NG_029422.2:g.6863A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.836A>G MANE Select | ENSP00000365402.5:p.Gln279Arg | |
| ENST00000376228.9:c.836A>G | ENSP00000365402.5:p.Gln279Arg | |
| ENST00000376237.8:c.*423A>G | ENSP00000365412.4:n.*423A>G | |
| ENST00000383329.7:c.836A>G | ENSP00000372819.3:p.Gln279Arg | |
| ENST00000415537.1:c.727A>G | ||
| ENST00000470363.5:n.154A>G | ||
| ENST00000487245.5:n.1195A>G | ||
| ENST00000495835.1:n.1025A>G | ||
| NM_002117.5:c.836A>G | NP_002108.4:p.Gln279Arg | |
| NM_002117.6:c.836A>G MANE Select | NP_002108.4:p.Gln279Arg |