Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612841A= , CM000668.2:g.1612841A= | GRCh38 |
| NC_000006.11:g.1613076A= , CM000668.1:g.1613076A= | GRCh37 |
| NC_000006.10:g.1558075A= | NCBI36 |
| NG_009368.1:g.7396A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001453.3:c.*734A= MANE Select | NP_001444.2:n.*734A= |
| ENST00000645831.2:c.*734A= MANE Select | ENSP00000493906.1:n.*734A= |
| NM_001453.2:c.2396A= | NP_001444.2:n.2396A= |
| ENST00000380874.3:c.*734A= | ENSP00000370256.2:n.*734A= |