Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533791A= , CM000681.2:g.7533791A= | GRCh38 |
| NC_000019.9:g.7598677A= , CM000681.1:g.7598677A= | GRCh37 |
| NC_000019.8:g.7504677A= | NCBI36 |
| NG_013374.1:g.4640A= | |
| NG_015806.1:g.16182A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1739A= MANE Select | ENSP00000264079.5:p.Asn580= | |
| ENST00000264079.10:c.1739A= | ENSP00000264079.5:p.Asn580= | |
| ENST00000394321.9:n.2054A= | ||
| ENST00000599334.1:c.467A= | ||
| ENST00000601870.1:c.92A= | ||
| ENST00000602227.1:n.293A= | ||
| NM_020533.2:c.1739A= | NP_065394.1:p.Asn580= | |
| NM_020533.3:c.1739A= MANE Select | NP_065394.1:p.Asn580= |