Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11970699C>A , CM000663.2:g.11970699C>A | GRCh38 |
| NC_000001.10:g.12030756C>A , CM000663.1:g.12030756C>A | GRCh37 |
| NC_000001.9:g.11953343C>A | NCBI36 |
| NG_008159.1:g.41011C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1785C>A MANE Select | ENSP00000196061.4:p.Asn595Lys | |
| ENST00000196061.4:c.1785C>A | ENSP00000196061.4:p.Asn595Lys | |
| ENST00000491536.5:n.383+3608C>A | ||
| NM_000302.3:c.1785C>A | NP_000293.2:p.Asn595Lys | |
| NM_001316320.1:c.1926C>A | NP_001303249.1:p.Asn642Lys | |
| XM_011541594.1:c.1866C>A | XP_011539896.1:p.Asn622Lys | |
| XM_024447707.1:c.1119C>A | XP_024303475.1:p.Asn373Lys | |
| NM_000302.4:c.1785C>A MANE Select | NP_000293.2:p.Asn595Lys | |
| NM_001316320.2:c.1926C>A | NP_001303249.1:p.Asn642Lys |