Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533651A= , CM000681.2:g.7533651A= | GRCh38 |
| NC_000019.9:g.7598537A= , CM000681.1:g.7598537A= | GRCh37 |
| NC_000019.8:g.7504537A= | NCBI36 |
| NG_013374.1:g.4500A= | |
| NG_015806.1:g.16042A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1704A= MANE Select | NP_065394.1:p.Gly568= |
| ENST00000264079.11:c.1704A= MANE Select | ENSP00000264079.5:p.Gly568= |
| NM_020533.2:c.1704A= | NP_065394.1:p.Gly568= |
| ENST00000264079.10:c.1704A= | ENSP00000264079.5:p.Gly568= |
| ENST00000394321.9:n.2019A= | |
| ENST00000599334.1:c.432A= | |
| ENST00000601870.1:c.57A= | |
| ENST00000602227.1:n.258A= |