Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.20132224C>T , CM000685.2:g.20132224C>T | GRCh38 |
| NC_000023.10:g.20150342C>T , CM000685.1:g.20150342C>T | GRCh37 |
| NC_000023.9:g.20060263C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001412.4:c.295G>A MANE Select | NP_001403.1:p.Glu99Lys |
| ENST00000379607.10:c.295G>A MANE Select | ENSP00000368927.5:p.Glu99Lys |
| NM_001412.3:c.295G>A | NP_001403.1:p.Glu99Lys |
| ENST00000379593.1:c.211G>A | ENSP00000368912.1:p.Glu71Lys |
| ENST00000379607.9:c.295G>A | ENSP00000368927.5:p.Glu99Lys |