Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345838T= , CM000674.2:g.76345838T= | GRCh38 |
| NC_000012.11:g.76739618T= , CM000674.1:g.76739618T= | GRCh37 |
| NC_000012.10:g.75263749T= | NCBI36 |
| NG_016357.1:g.7605A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2147A= MANE Select | ENSP00000497413.1:p.Asn716= | |
| ENST00000393262.3:c.2147A= | ENSP00000376946.3:p.Asn716= | |
| NM_024685.3:c.2147A= | NP_078961.3:p.Asn716= | |
| NM_024685.4:c.2147A= MANE Select | NP_078961.3:p.Asn716= |