Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.7639107C>A , CM000669.2:g.7639107C>A | GRCh38 |
| NC_000007.13:g.7678738C>A , CM000669.1:g.7678738C>A | GRCh37 |
| NC_000007.12:g.7645263C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002947.5:c.137G>T MANE Select | NP_002938.1:p.Gly46Val |
| ENST00000223129.8:c.137G>T MANE Select | ENSP00000223129.4:p.Gly46Val |
| NM_002947.3:c.137G>T | NP_002938.1:p.Gly46Val |
| NM_002947.4:c.137G>T | NP_002938.1:p.Gly46Val |
| ENST00000396682.6:c.137G>T | ENSP00000379914.2:p.Gly46Val |
| ENST00000401447.1:c.20G>T | ENSP00000385383.1:p.Gly7Val |
| ENST00000406109.5:c.20G>T | ENSP00000384652.1:p.Gly7Val |
| ENST00000462723.1:n.296G>T | |
| ENST00000463632.1:n.265G>T |