Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931598C>G , CM000677.2:g.40931598C>G | GRCh38 |
| NC_000015.9:g.41223796C>G , CM000677.1:g.41223796C>G | GRCh37 |
| NC_000015.8:g.39011088C>G | NCBI36 |
| NG_046974.1:g.7266C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.490C>G MANE Select | ENSP00000249749.5:p.Leu164Val | |
| ENST00000249749.6:c.490C>G | ENSP00000249749.5:p.Leu164Val | |
| ENST00000559440.1:n.719C>G | ||
| NM_019074.3:c.490C>G | NP_061947.1:p.Leu164Val | |
| NM_019074.4:c.490C>G MANE Select | NP_061947.1:p.Leu164Val |