Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69818917A= , CM000673.2:g.69818917A= | GRCh38 |
| NC_000011.9:g.69633685A= , CM000673.1:g.69633685A= | GRCh37 |
| NC_000011.8:g.69342622A= | NCBI36 |
| NG_009016.1:g.5508T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.17T= MANE Select | NP_005238.1:p.Leu6= |
| ENST00000334134.4:c.17T= MANE Select | ENSP00000334122.2:p.Leu6= |
| NM_005247.2:c.17T= | NP_005238.1:p.Leu6= |
| NM_005247.3:c.17T= | NP_005238.1:p.Leu6= |
| ENST00000334134.2:c.17T= | ENSP00000334122.2:p.Leu6= |