Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31125810G= , CM000668.2:g.31125810G= | GRCh38 |
| NC_000006.11:g.31093587G= , CM000668.1:g.31093587G= | GRCh37 |
| NC_000006.10:g.31201566G= | NCBI36 |
| NG_021348.1:g.15980G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014068.3:c.-94G= MANE Select | NP_054787.2:n.-94G= |
| ENST00000259881.10:c.-94G= MANE Select | ENSP00000259881.9:n.-94G= |
| NM_014068.2:c.-94G= | NP_054787.2:n.-94G= |
| ENST00000259881.9:c.-94G= | ENSP00000259881.9:n.-94G= |
| ENST00000479581.5:n.61+10919G= | |
| ENST00000548049.1:n.251G= | |
| ENST00000550838.1:n.130G= | |
| ENST00000552747.1:n.53+10919G= |