Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26122364G= , CM000674.2:g.26122364G= | GRCh38 |
| NC_000012.11:g.26275297G= , CM000674.1:g.26275297G= | GRCh37 |
| NC_000012.10:g.26166564G= | NCBI36 |
| NG_012011.2:g.5374G= , LRG_209:g.5374G= | |
| NG_021173.1:g.7707C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030762.3:c.1151C= (BHLHE41) MANE Select | NP_110389.1:p.Pro384= |
| ENST00000242728.5:c.1151C= (BHLHE41) MANE Select | ENSP00000242728.4:p.Pro384= |
| NM_030762.2:c.1151C= (BHLHE41) | NP_110389.1:p.Pro384= |
| ENST00000242728.4:c.1151C= (BHLHE41) | ENSP00000242728.4:p.Pro384= |
| ENST00000534829.5:n.101+212G= (SSPN) | |
| ENST00000538142.5:c.-31+212G= (SSPN) | ENSP00000445360.1:n.-31+212G= |
| XM_011520853.1:c.-31+212G= (SSPN) | XP_011519155.1:n.-31+212G= |
| XM_011520853.3:c.-31+212G= (SSPN) | XP_011519155.1:n.-31+212G= |