gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428361G>A , CM000677.2:g.48428361G>A | GRCh38 |
| NC_000015.9:g.48720558G>A , CM000677.1:g.48720558G>A | GRCh37 |
| NC_000015.8:g.46507850G>A | NCBI36 |
| NG_008805.2:g.222428C>T , LRG_778:g.222428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6982C>T | ENSP00000453958.2:p.Gln2328Ter | |
| ENST00000674301.2:c.*433C>T | ENSP00000501333.2:n.*433C>T | |
| ENST00000682170.1:n.591C>T | ||
| ENST00000682767.1:n.217C>T | ||
| ENST00000316623.10:c.6982C>T MANE Select | ENSP00000325527.5:p.Gln2328Ter | |
| ENST00000674301.1:c.2086C>T | ENSP00000501333.1:n.2086C>T | |
| ENST00000316623.9:c.6982C>T | ENSP00000325527.5:p.Gln2328Ter | |
| ENST00000559133.5:c.2289C>T | ||
| ENST00000560720.1:n.269C>T | ||
| NM_000138.4:c.6982C>T , LRG_778t1:c.6982C>T | NP_000129.3:p.Gln2328Ter | |
| NM_000138.5:c.6982C>T MANE Select | NP_000129.3:p.Gln2328Ter |