Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96410949G= , CM000667.2:g.96410949G= | GRCh38 |
| NC_000005.9:g.95746653G= , CM000667.1:g.95746653G= | GRCh37 |
| NC_000005.8:g.95772409G= | NCBI36 |
| NG_021161.1:g.27333C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000439.5:c.920C= MANE Select | NP_000430.3:p.Ser307= |
| ENST00000311106.8:c.920C= MANE Select | ENSP00000308024.2:p.Ser307= |
| NM_000439.4:c.920C= | NP_000430.3:p.Ser307= |
| NM_001177875.1:c.779C= | NP_001171346.1:p.Ser260= |
| NM_001177875.2:c.779C= | NP_001171346.1:p.Ser260= |
| NR_130776.1:n.354+31297G= | |
| ENST00000311106.7:c.920C= | ENSP00000308024.2:p.Ser307= |
| ENST00000508626.5:c.779C= | ENSP00000421600.1:p.Ser260= |
| ENST00000513085.1:n.238+1369C= |