Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136673906A= , CM000671.2:g.136673906A= | GRCh38 |
| NC_000009.11:g.139568358A= , CM000671.1:g.139568358A= | GRCh37 |
| NC_000009.10:g.138688179A= | NCBI36 |
| NG_008090.1:g.18554T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006412.4:c.683T= MANE Select | NP_006403.2:p.Leu228= |
| ENST00000371696.7:c.683T= MANE Select | ENSP00000360761.2:p.Leu228= |
| NM_001012727.1:c.587T= | NP_001012745.1:p.Leu196= |
| NM_001012727.2:c.587T= | NP_001012745.1:p.Leu196= |
| NM_006412.3:c.683T= | NP_006403.2:p.Leu228= |
| ENST00000371694.7:c.587T= | ENSP00000360759.3:p.Leu196= |
| ENST00000371696.6:c.683T= | ENSP00000360761.2:p.Leu228= |
| ENST00000472820.1:n.611T= | |
| ENST00000538402.1:c.683T= | ENSP00000438919.1:p.Leu228= |