Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45116638C>G , CM000677.2:g.45116638C>G | GRCh38 |
| NC_000015.9:g.45408836C>G , CM000677.1:g.45408836C>G | GRCh37 |
| NC_000015.8:g.43196128C>G | NCBI36 |
| NG_009447.1:g.2524G>C | |
| NG_016992.1:g.7314C>G | |
| NG_033105.1:g.18240G>C | |
| NG_033105.2:g.18240G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207581.4:c.463C>G MANE Select | NP_997464.2:p.Leu155Val |
| ENST00000323030.6:c.463C>G MANE Select | ENSP00000319705.5:p.Leu155Val |
| NM_207581.3:c.463C>G | NP_997464.2:p.Leu155Val |
| ENST00000323030.5:c.463C>G | ENSP00000319705.5:p.Leu155Val |
| ENST00000350243.10:n.743C>G | |
| ENST00000491993.2:c.*530C>G | ENSP00000454110.1:n.*530C>G |
| XM_017022180.1:c.514C>G | XP_016877669.1:p.Leu172Val |