Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101342603A= , CM000674.2:g.101342603A= | GRCh38 |
| NC_000012.11:g.101736381A= , CM000674.1:g.101736381A= | GRCh37 |
| NC_000012.10:g.100260512A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014503.3:c.4245+14A= MANE Select | NP_055318.2:n.4245+14A= |
| ENST00000261637.5:c.4245+14A= MANE Select | ENSP00000261637.4:n.4245+14A= |
| NM_014503.2:c.4245+14A= | NP_055318.2:n.4245+14A= |
| ENST00000261637.4:c.4245+14A= | ENSP00000261637.4:n.4245+14A= |
| XM_006719343.2:c.4245+14A= | XP_006719406.1:n.4245+14A= |