Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2422968C= , CM000673.2:g.2422968C= | GRCh38 |
| NC_000011.9:g.2444198C= , CM000673.1:g.2444198C= | GRCh37 |
| NC_000011.8:g.2400774C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696290.1:c.69G= MANE Select | ENSP00000512529.1:p.Leu23= | |
| ENST00000155858.10:c.69G= | ENSP00000155858.5:p.Leu23= | |
| ENST00000528453.1:c.69G= | ENSP00000436809.1:p.Leu23= | |
| ENST00000533060.5:c.69G= | ENSP00000434121.1:p.Leu23= | |
| ENST00000533881.5:c.45G= | ENSP00000434383.1:p.Leu15= | |
| NM_014555.3:c.69G= | NP_055370.1:p.Leu23= | |
| XM_011520035.1:c.330G= | XP_011518337.1:p.Leu110= | |
| XM_017017628.1:c.123G= | XP_016873117.1:p.Leu41= | |
| NM_014555.4:c.69G= MANE Select | NP_055370.1:p.Leu23= |