Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52679790G= , CM000674.2:g.52679790G= | GRCh38 |
| NC_000012.11:g.53073574G= , CM000674.1:g.53073574G= | GRCh37 |
| NC_000012.10:g.51359841G= | NCBI36 |
| NG_008364.1:g.5618C= | |
| NG_008364.2:g.5618C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006121.4:c.559C= MANE Select | NP_006112.3:p.Leu187= |
| ENST00000252244.3:c.559C= MANE Select | ENSP00000252244.3:p.Leu187= |
| NM_006121.3:c.559C= | NP_006112.3:p.Leu187= |