Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48728468C>G , CM000679.2:g.48728468C>G | GRCh38 |
| NC_000017.10:g.46805830C>G , CM000679.1:g.46805830C>G | GRCh37 |
| NC_000017.9:g.44160829C>G | NCBI36 |
| NG_033789.1:g.5282G>C , LRG_771:g.5282G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006361.6:c.126G>C MANE Select | NP_006352.2:p.Leu42= |
| ENST00000290295.8:c.126G>C MANE Select | ENSP00000290295.8:p.Leu42= |
| NM_006361.5:c.126G>C , LRG_771t1:c.126G>C | NP_006352.2:p.Leu42= |
| ENST00000290295.7:c.126G>C | ENSP00000290295.7:p.Leu42= |