Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787614T= , CM000681.2:g.18787614T= | GRCh38 |
| NC_000019.9:g.18898423T= , CM000681.1:g.18898423T= | GRCh37 |
| NC_000019.8:g.18759423T= | NCBI36 |
| NG_007070.1:g.8692A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1012A= MANE Select | ENSP00000222271.2:p.Asn338= | |
| ENST00000222271.6:c.1012A= | ENSP00000222271.2:p.Asn338= | |
| ENST00000425807.1:c.853A= | ENSP00000403792.1:p.Asn285= | |
| ENST00000542601.6:c.913A= | ENSP00000439156.2:p.Asn305= | |
| NM_000095.2:c.1012A= | NP_000086.2:p.Asn338= | |
| NM_000095.3:c.1012A= MANE Select | NP_000086.2:p.Asn338= |