Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24955509A= , CM000670.2:g.24955509A= | GRCh38 |
| NC_000008.10:g.24813023A= , CM000670.1:g.24813023A= | GRCh37 |
| NC_000008.9:g.24868940A= | NCBI36 |
| NG_008492.1:g.6109T= , LRG_259:g.6109T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1007T= MANE Select | NP_006149.2:p.Leu336= |
| ENST00000610854.2:c.1007T= MANE Select | ENSP00000482169.2:p.Leu336= |
| NM_006158.4:c.1007T= , LRG_259t1:c.1007T= | NP_006149.2:p.Leu336= |
| ENST00000610854.1:c.1007T= | ENSP00000482169.1:p.Leu336= |
| ENST00000615973.1:n.1213T= | |
| ENST00000619417.1:c.728T= | ENSP00000483690.1:p.Leu243= |