Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530332A= , CM000681.2:g.7530332A= | GRCh38 |
| NC_000019.9:g.7595218A= , CM000681.1:g.7595218A= | GRCh37 |
| NC_000019.8:g.7501218A= | NCBI36 |
| NG_013374.1:g.1181A= | |
| NG_015806.1:g.12723A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1406A= MANE Select | NP_065394.1:p.Asn469= |
| ENST00000264079.11:c.1406A= MANE Select | ENSP00000264079.5:p.Asn469= |
| NM_020533.2:c.1406A= | NP_065394.1:p.Asn469= |
| ENST00000264079.10:c.1406A= | ENSP00000264079.5:p.Asn469= |
| ENST00000394321.9:n.1721A= | |
| ENST00000594692.1:n.402A= | |
| ENST00000595860.5:n.589A= | |
| ENST00000599334.1:c.237-103A= |