Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868578T= , CM000673.2:g.65868578T= | GRCh38 |
| NC_000011.9:g.65636049T= , CM000673.1:g.65636049T= | GRCh37 |
| NC_000011.8:g.65392625T= | NCBI36 |
| NG_012304.2:g.9357A= | |
| NG_053116.1:g.13517T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.779A= MANE Select | ENSP00000309953.6:p.Asn260= | |
| ENST00000307998.10:c.779A= | ENSP00000309953.6:p.Asn260= | |
| ENST00000526628.5:n.1345A= | ||
| ENST00000527969.1:n.1464A= | ||
| ENST00000528176.5:c.779A= | ENSP00000434151.1:p.Asn260= | |
| ENST00000531005.5:n.1773A= | ||
| ENST00000531972.5:c.779A= | ENSP00000435295.1:p.Asn260= | |
| ENST00000532084.5:n.205A= | ||
| NM_016938.4:c.779A= | NP_058634.4:p.Asn260= | |
| NR_037718.1:n.1038A= | ||
| NM_016938.5:c.779A= MANE Select | NP_058634.4:p.Asn260= | |
| NR_037718.2:n.904A= |