Linked Data
gnomAD v3:
6-31270316-T-G
gnomAD v4:
6-31270316-T-G
MyVariant Identifiers:
chr6:g.31238093T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270316T>G , CM000668.2:g.31270316T>G | GRCh38 |
| NC_000006.11:g.31238093T>G , CM000668.1:g.31238093T>G | GRCh37 |
| NC_000006.10:g.31346072T>G | NCBI36 |
| NG_029422.2:g.6816A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.789A>C MANE Select | ENSP00000365402.5:p.Gly263= | |
| ENST00000376228.9:c.789A>C | ENSP00000365402.5:p.Gly263= | |
| ENST00000376237.8:c.*376A>C | ENSP00000365412.4:n.*376A>C | |
| ENST00000383329.7:c.789A>C | ENSP00000372819.3:p.Gly263= | |
| ENST00000415537.1:c.680A>C | ||
| ENST00000470363.5:n.107A>C | ||
| ENST00000487245.5:n.1148A>C | ||
| ENST00000495835.1:n.978A>C | ||
| NM_002117.5:c.789A>C | NP_002108.4:p.Gly263= | |
| NM_002117.6:c.789A>C MANE Select | NP_002108.4:p.Gly263= |