Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191837T= , CM000670.2:g.23191837T= | GRCh38 |
| NC_000008.10:g.23049350T= , CM000670.1:g.23049350T= | GRCh37 |
| NC_000008.9:g.23105295T= | NCBI36 |
| NG_032107.1:g.38331A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1264A= MANE Select | ENSP00000221132.3:p.Asn422= | |
| ENST00000221132.7:c.1264A= | ENSP00000221132.3:p.Asn422= | |
| ENST00000519862.1:n.319A= | ||
| ENST00000613472.1:c.790A= | ENSP00000480778.1:p.Asn264= | |
| NM_003844.3:c.1264A= | NP_003835.3:p.Asn422= | |
| NM_003844.4:c.1264A= MANE Select | NP_003835.3:p.Asn422= |