Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401350C= , CM000681.2:g.1401350C= | GRCh38 |
| NC_000019.9:g.1401349C= , CM000681.1:g.1401349C= | GRCh37 |
| NC_000019.8:g.1352349C= | NCBI36 |
| NG_009785.1:g.5204G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.127G= MANE Select | ENSP00000252288.1:p.Glu43= | |
| ENST00000447102.8:c.127G= | ENSP00000403536.2:p.Glu43= | |
| ENST00000640762.1:c.112+15G= | ENSP00000492031.1:n.112+15G= | |
| ENST00000252288.6:c.127G= | ENSP00000252288.1:p.Glu43= | |
| ENST00000447102.7:c.127G= | ENSP00000403536.2:p.Glu43= | |
| NM_000156.5:c.127G= | NP_000147.1:p.Glu43= | |
| NM_138924.2:c.127G= | NP_620279.1:p.Glu43= | |
| NM_000156.6:c.127G= MANE Select | NP_000147.1:p.Glu43= | |
| NM_138924.3:c.127G= | NP_620279.1:p.Glu43= |