Linked Data
gnomAD v4:
6-31270008-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270008C>A , CM000668.2:g.31270008C>A | GRCh38 |
| NC_000006.11:g.31237785C>A , CM000668.1:g.31237785C>A | GRCh37 |
| NC_000006.10:g.31345764C>A | NCBI36 |
| NG_029422.2:g.7124G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.973G>T MANE Select | ENSP00000365402.5:p.Gly325Ter | |
| ENST00000376228.9:c.973G>T | ENSP00000365402.5:p.Gly325Ter | |
| ENST00000376237.8:c.*560G>T | ENSP00000365412.4:n.*560G>T | |
| ENST00000383329.7:c.973G>T | ENSP00000372819.3:p.Gly325Ter | |
| ENST00000470363.5:n.291G>T | ||
| ENST00000487245.5:n.1332G>T | ||
| NM_002117.5:c.973G>T | NP_002108.4:p.Gly325Ter | |
| NM_002117.6:c.973G>T MANE Select | NP_002108.4:p.Gly325Ter |