Linked Data
dbSNP Id:
rs707908
ExAC:
6:31238053 G / C
gnomAD v2:
6-31238053-G-C
gnomAD v3:
6-31270276-G-C
gnomAD v4:
6-31270276-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270276G>C , CM000668.2:g.31270276G>C | GRCh38 |
| NC_000006.11:g.31238053G>C , CM000668.1:g.31238053G>C | GRCh37 |
| NC_000006.10:g.31346032G>C | NCBI36 |
| NG_029422.2:g.6856C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.829C>G MANE Select | ENSP00000365402.5:p.Gln277Glu | |
| ENST00000376228.9:c.829C>G | ENSP00000365402.5:p.Gln277Glu | |
| ENST00000376237.8:c.*416C>G | ENSP00000365412.4:n.*416C>G | |
| ENST00000383329.7:c.829C>G | ENSP00000372819.3:p.Gln277Glu | |
| ENST00000415537.1:c.720C>G | ||
| ENST00000470363.5:n.147C>G | ||
| ENST00000487245.5:n.1188C>G | ||
| ENST00000495835.1:n.1018C>G | ||
| NM_002117.5:c.829C>G | NP_002108.4:p.Gln277Glu | |
| NM_002117.6:c.829C>G MANE Select | NP_002108.4:p.Gln277Glu |