Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64581751C>G , CM000670.2:g.64581751C>G | GRCh38 |
| NC_000008.10:g.65494308C>G , CM000670.1:g.65494308C>G | GRCh37 |
| NC_000008.9:g.65656862C>G | NCBI36 |
| NG_051813.1:g.6514C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152414.5:c.961C>G (BHLHE22) MANE Select | NP_689627.1:p.Leu321Val |
| ENST00000321870.3:c.961C>G (BHLHE22) MANE Select | ENSP00000318799.1:p.Leu321Val |
| NM_152414.4:c.961C>G (BHLHE22) | NP_689627.1:p.Leu321Val |
| NR_152770.1:n.142G>C (BHLHE22-AS1) | |
| ENST00000321870.2:c.961C>G (BHLHE22) | ENSP00000318799.1:p.Leu321Val |