Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29917600A= , CM000685.2:g.29917600A= | GRCh38 |
| NC_000023.10:g.29935717A= , CM000685.1:g.29935717A= | GRCh37 |
| NC_000023.9:g.29845638A= | NCBI36 |
| NG_008292.1:g.1335037A= | |
| NG_008292.2:g.1335037A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.911+4A= MANE Select | ENSP00000368278.1:n.911+4A= | |
| ENST00000302196.5:c.134+4A= | ENSP00000305200.5:n.134+4A= | |
| ENST00000378993.5:c.911+4A= | ENSP00000368278.1:n.911+4A= | |
| NM_014271.3:c.911+4A= | NP_055086.1:n.911+4A= | |
| XM_005274441.1:c.911+4A= | XP_005274498.1:n.911+4A= | |
| XM_011545445.1:c.911+4A= | XP_011543747.1:n.911+4A= | |
| XM_017029240.1:c.911+4A= | XP_016884729.1:n.911+4A= | |
| XM_017029241.1:c.533+4A= | XP_016884730.1:n.533+4A= | |
| NM_014271.4:c.911+4A= MANE Select | NP_055086.1:n.911+4A= |