Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113074737C= , CM000664.2:g.113074737C= | GRCh38 |
| NC_000002.11:g.113832314C= , CM000664.1:g.113832314C= | GRCh37 |
| NC_000002.10:g.113548785C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393197.3:c.133C= | ENSP00000376893.2:p.Leu45= | |
| ENST00000341010.6:c.133C= MANE Select | ENSP00000341794.2:p.Leu45= | |
| ENST00000393197.2:c.133C= | ENSP00000376893.2:p.Leu45= | |
| ENST00000496265.1:n.199C= | ||
| NM_032556.5:c.133C= | NP_115945.4:p.Leu45= | |
| NM_173161.2:c.133C= | NP_775184.1:p.Leu45= | |
| NM_032556.6:c.133C= | NP_115945.4:p.Leu45= | |
| NM_173161.3:c.133C= MANE Select | NP_775184.1:p.Leu45= |