Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944472C= , CM000676.2:g.50944472C= | GRCh38 |
| NC_000014.8:g.51411190C= , CM000676.1:g.51411190C= | GRCh37 |
| NC_000014.7:g.50480940C= | NCBI36 |
| NG_012796.1:g.5059G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.-69G= MANE Select | ENSP00000216392.7:n.-69G= | |
| ENST00000216392.7:c.-69G= | ENSP00000216392.7:n.-69G= | |
| ENST00000544180.6:c.-69G= | ENSP00000443787.1:n.-69G= | |
| NM_001163940.1:c.-69G= | NP_001157412.1:n.-69G= | |
| NM_002863.4:c.-69G= | NP_002854.3:n.-69G= | |
| NM_002863.5:c.-69G= MANE Select | NP_002854.3:n.-69G= | |
| NM_001163940.2:c.-69G= | NP_001157412.1:n.-69G= |