Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62475514T= , CM000682.2:g.62475514T= | GRCh38 |
| NC_000020.10:g.61050570T= , CM000682.1:g.61050570T= | GRCh37 |
| NC_000020.9:g.60483965T= | NCBI36 |
| NG_046963.1:g.5457A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_080473.5:c.8A= MANE Select | NP_536721.1:p.Gln3= |
| ENST00000252997.3:c.8A= MANE Select | ENSP00000252997.2:p.Gln3= |
| NM_080473.4:c.8A= | NP_536721.1:p.Gln3= |
| ENST00000252997.2:c.8A= | ENSP00000252997.2:p.Gln3= |
| XM_006723699.2:c.8A= | XP_006723762.1:p.Gln3= |
| XM_006723699.3:c.8A= | XP_006723762.1:p.Gln3= |