Linked Data
gnomAD v4:
6-31270416-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270416A>T , CM000668.2:g.31270416A>T | GRCh38 |
| NC_000006.11:g.31238193A>T , CM000668.1:g.31238193A>T | GRCh37 |
| NC_000006.10:g.31346172A>T | NCBI36 |
| NG_029422.2:g.6716T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.689T>A MANE Select | ENSP00000365402.5:p.Leu230Gln | |
| ENST00000376228.9:c.689T>A | ENSP00000365402.5:p.Leu230Gln | |
| ENST00000376237.8:c.*276T>A | ENSP00000365412.4:n.*276T>A | |
| ENST00000383329.7:c.689T>A | ENSP00000372819.3:p.Leu230Gln | |
| ENST00000415537.1:c.664+23T>A | ||
| ENST00000470363.5:n.7T>A | ||
| ENST00000487245.5:n.1048T>A | ||
| ENST00000495835.1:n.878T>A | ||
| NM_002117.5:c.689T>A | NP_002108.4:p.Leu230Gln | |
| NM_002117.6:c.689T>A MANE Select | NP_002108.4:p.Leu230Gln |