Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109784115G= , CM000675.2:g.109784115G= | GRCh38 |
| NC_000013.10:g.110436462G= , CM000675.1:g.110436462G= | GRCh37 |
| NC_000013.9:g.109234463G= | NCBI36 |
| NG_008154.1:g.7453C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003749.3:c.1939C= MANE Select | NP_003740.2:p.Leu647= |
| ENST00000375856.5:c.1939C= MANE Select | ENSP00000365016.3:p.Leu647= |
| NM_003749.2:c.1939C= | NP_003740.2:p.Leu647= |
| ENST00000375856.4:c.1939C= | ENSP00000365016.3:p.Leu647= |