Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419950G= , CM000676.2:g.23419950G= | GRCh38 |
| NC_000014.8:g.23889159G= , CM000676.1:g.23889159G= | GRCh37 |
| NC_000014.7:g.22958999G= | NCBI36 |
| NG_007884.1:g.20712C= , LRG_384:g.20712C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.3621C= MANE Select | NP_000248.2:p.Ile1207= |
| ENST00000355349.4:c.3621C= MANE Select | ENSP00000347507.3:p.Ile1207= |
| NM_000257.3:c.3621C= | NP_000248.2:p.Ile1207= |
| ENST00000355349.3:c.3621C= | ENSP00000347507.3:p.Ile1207= |
| XM_017021340.1:c.3621C= | XP_016876829.1:p.Ile1207= |