Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525122A= , CM000681.2:g.7525122A= | GRCh38 |
| NC_000019.9:g.7590008A= , CM000681.1:g.7590008A= | GRCh37 |
| NC_000019.8:g.7496008A= | NCBI36 |
| NG_015806.1:g.7513A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.193A= MANE Select | ENSP00000264079.5:p.Lys65= | |
| ENST00000264079.10:c.193A= | ENSP00000264079.5:p.Lys65= | |
| ENST00000394321.9:n.273A= | ||
| ENST00000596390.1:n.309A= | ||
| ENST00000601003.1:c.193A= | ENSP00000469074.1:p.Lys65= | |
| NM_020533.2:c.193A= | NP_065394.1:p.Lys65= | |
| NM_020533.3:c.193A= MANE Select | NP_065394.1:p.Lys65= |