Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191814C= , CM000670.2:g.23191814C= | GRCh38 |
| NC_000008.10:g.23049327C= , CM000670.1:g.23049327C= | GRCh37 |
| NC_000008.9:g.23105272C= | NCBI36 |
| NG_032107.1:g.38354G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1287G= MANE Select | ENSP00000221132.3:p.Leu429= | |
| ENST00000221132.7:c.1287G= | ENSP00000221132.3:p.Leu429= | |
| ENST00000519862.1:n.342G= | ||
| ENST00000613472.1:c.813G= | ENSP00000480778.1:p.Leu271= | |
| NM_003844.3:c.1287G= | NP_003835.3:p.Leu429= | |
| NM_003844.4:c.1287G= MANE Select | NP_003835.3:p.Leu429= |