Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158292133G>C , CM000663.2:g.158292133G>C | GRCh38 |
| NC_000001.10:g.158261923G>C , CM000663.1:g.158261923G>C | GRCh37 |
| NC_000001.9:g.156528547G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001765.3:c.378G>C (CD1C) MANE Select | NP_001756.2:p.Lys126Asn |
| ENST00000368170.8:c.378G>C (CD1C) MANE Select | ENSP00000357152.3:p.Lys126Asn |
| NM_001765.2:c.378G>C (CD1C) | NP_001756.2:p.Lys126Asn |
| ENST00000368170.7:c.378G>C (CD1C) | ENSP00000357152.3:p.Lys126Asn |
| ENST00000443761.1:c.181G>C (CD1C) | |
| XM_005245579.3:c.378G>C (CD1C) | XP_005245636.1:p.Lys126Asn |
| XM_005245579.5:c.378G>C (CD1C) | XP_005245636.1:p.Lys126Asn |
| XM_017002785.2:c.608-4094C>G (CD1B) | XP_016858274.1:n.608-4094C>G |