Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94938737C= , CM000672.2:g.94938737C= | GRCh38 |
| NC_000010.10:g.96698494C= , CM000672.1:g.96698494C= | GRCh37 |
| NC_000010.9:g.96688484C= | NCBI36 |
| NG_008385.1:g.5080C= | |
| NG_008385.2:g.5580C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.55C= MANE Select | NP_000762.2:p.Leu19= |
| ENST00000260682.8:c.55C= MANE Select | ENSP00000260682.6:p.Leu19= |
| NM_000771.3:c.55C= | NP_000762.2:p.Leu19= |
| ENST00000260682.6:c.55C= | ENSP00000260682.6:p.Leu19= |
| ENST00000461906.1:n.80C= | |
| ENST00000643112.1:c.55C= | ENSP00000496202.1:p.Leu19= |