Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102065697C>A , CM000672.2:g.102065697C>A | GRCh38 |
| NC_000010.10:g.103825454C>A , CM000672.1:g.103825454C>A | GRCh37 |
| NC_000010.9:g.103815444C>A | NCBI36 |
| NG_012029.1:g.5308C>A , LRG_564:g.5308C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024747.6:c.223C>A MANE Select | NP_079023.2:p.Gln75Lys |
| ENST00000299238.7:c.223C>A MANE Select | ENSP00000299238.5:p.Gln75Lys |
| NM_024747.5:c.223C>A , LRG_564t1:c.223C>A | NP_079023.2:p.Gln75Lys |
| ENST00000299238.6:c.223C>A | ENSP00000299238.5:p.Gln75Lys |