Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154323741C>A , CM000663.2:g.154323741C>A | GRCh38 |
| NC_000001.10:g.154296217C>A , CM000663.1:g.154296217C>A | GRCh37 |
| NC_000001.9:g.152562841C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080429.3:c.642C>A MANE Select | NP_536354.2:p.Asn214Lys |
| ENST00000324978.8:c.642C>A MANE Select | ENSP00000318355.3:p.Asn214Lys |
| NM_080429.2:c.642C>A | NP_536354.2:p.Asn214Lys |
| ENST00000324978.7:c.642C>A | ENSP00000318355.3:p.Asn214Lys |
| ENST00000355197.4:n.581C>A | |
| ENST00000484864.1:c.642C>A | ENSP00000420341.1:p.Asn214Lys |
| XM_011510104.1:c.645C>A | XP_011508406.1:p.Asn215Lys |
| XM_011510104.2:c.645C>A | XP_011508406.1:p.Asn215Lys |