Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23380092C>G , CM000685.2:g.23380092C>G | GRCh38 |
| NC_000023.10:g.23398209C>G , CM000685.1:g.23398209C>G | GRCh37 |
| NC_000023.9:g.23308130C>G | NCBI36 |
| NG_021300.1:g.50225C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379361.5:c.853C>G MANE Select | ENSP00000368666.4:p.Leu285Val | |
| ENST00000379361.4:c.853C>G | ENSP00000368666.4:p.Leu285Val | |
| ENST00000456522.1:c.159-12439C>G | ||
| ENST00000616022.1:c.538C>G | ENSP00000478663.1:p.Leu180Val | |
| NM_173495.2:c.853C>G | NP_775766.2:p.Leu285Val | |
| XM_011545449.1:c.853C>G | XP_011543751.1:p.Leu285Val | |
| XM_011545449.3:c.853C>G | XP_011543751.1:p.Leu285Val | |
| NM_173495.3:c.853C>G MANE Select | NP_775766.2:p.Leu285Val |