Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20999754T= , CM000676.2:g.20999754T= | GRCh38 |
| NC_000014.8:g.21467913T= , CM000676.1:g.21467913T= | GRCh37 |
| NC_000014.7:g.20537753T= | NCBI36 |
| NG_017065.1:g.5500T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014579.4:c.128T= MANE Select | NP_055394.2:p.Leu43= |
| ENST00000298681.5:c.128T= MANE Select | ENSP00000298681.4:p.Leu43= |
| NM_001256588.1:c.128T= | NP_001243517.1:p.Leu43= |
| NM_001256588.2:c.128T= | NP_001243517.1:p.Leu43= |
| NM_014579.3:c.128T= | NP_055394.2:p.Leu43= |
| ENST00000298681.4:c.128T= | ENSP00000298681.4:p.Leu43= |
| ENST00000554128.1:n.284T= | |
| ENST00000554422.5:c.128T= | ENSP00000452568.1:p.Leu43= |