Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64580797C>A , CM000670.2:g.64580797C>A | GRCh38 |
| NC_000008.10:g.65493354C>A , CM000670.1:g.65493354C>A | GRCh37 |
| NC_000008.9:g.65655908C>A | NCBI36 |
| NG_051813.1:g.5560C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152414.5:c.7C>A (BHLHE22) MANE Select | NP_689627.1:p.Arg3Ser |
| ENST00000321870.3:c.7C>A (BHLHE22) MANE Select | ENSP00000318799.1:p.Arg3Ser |
| NM_152414.4:c.7C>A (BHLHE22) | NP_689627.1:p.Arg3Ser |
| NR_152770.1:n.175+921G>T (BHLHE22-AS1) | |
| ENST00000321870.2:c.7C>A (BHLHE22) | ENSP00000318799.1:p.Arg3Ser |