Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753399A= , CM000674.2:g.101753399A= | GRCh38 |
| NC_000012.11:g.102147177A= , CM000674.1:g.102147177A= | GRCh37 |
| NC_000012.10:g.100671308A= | NCBI36 |
| NG_021243.1:g.82469T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024312.5:c.3575T= MANE Select | NP_077288.2:p.Phe1192= |
| ENST00000299314.12:c.3575T= MANE Select | ENSP00000299314.7:p.Phe1192= |
| NM_024312.4:c.3575T= | NP_077288.2:p.Phe1192= |
| ENST00000299314.11:c.3575T= | ENSP00000299314.7:p.Phe1192= |
| ENST00000549738.5:c.473T= | ENSP00000450161.1:n.473T= |
| XM_011538731.1:c.3494T= | XP_011537033.1:p.Phe1165= |
| XM_011538731.2:c.3494T= | XP_011537033.1:p.Phe1165= |
| XM_017019961.1:c.3359T= | XP_016875450.1:p.Phe1120= |
| XM_017019962.2:c.2348T= | XP_016875451.1:p.Phe783= |