Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787577T= , CM000681.2:g.18787577T= | GRCh38 |
| NC_000019.9:g.18898386T= , CM000681.1:g.18898386T= | GRCh37 |
| NC_000019.8:g.18759386T= | NCBI36 |
| NG_007070.1:g.8729A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1049A= MANE Select | ENSP00000222271.2:p.Asn350= | |
| ENST00000222271.6:c.1049A= | ENSP00000222271.2:p.Asn350= | |
| ENST00000425807.1:c.890A= | ENSP00000403792.1:p.Asn297= | |
| ENST00000542601.6:c.950A= | ENSP00000439156.2:p.Asn317= | |
| NM_000095.2:c.1049A= | NP_000086.2:p.Asn350= | |
| NM_000095.3:c.1049A= MANE Select | NP_000086.2:p.Asn350= |