Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18789244C>A , CM000681.2:g.18789244C>A | GRCh38 |
| NC_000019.9:g.18900053C>A , CM000681.1:g.18900053C>A | GRCh37 |
| NC_000019.8:g.18761053C>A | NCBI36 |
| NG_007070.1:g.7062G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.444G>T MANE Select | ENSP00000222271.2:p.Gly148= | |
| ENST00000222271.6:c.444G>T | ENSP00000222271.2:p.Gly148= | |
| ENST00000425807.1:c.391-352G>T | ENSP00000403792.1:n.391-352G>T | |
| ENST00000542601.6:c.345G>T | ENSP00000439156.2:p.Gly115= | |
| NM_000095.2:c.444G>T | NP_000086.2:p.Gly148= | |
| NM_000095.3:c.444G>T MANE Select | NP_000086.2:p.Gly148= |