Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536256A= , CM000680.2:g.31536256A= | GRCh38 |
| NC_000018.9:g.29116219A= , CM000680.1:g.29116219A= | GRCh37 |
| NC_000018.8:g.27370217A= | NCBI36 |
| NG_007072.3:g.43015A= , LRG_397:g.43015A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.1478A= MANE Select | NP_001934.2:p.Asn493= |
| ENST00000261590.13:c.1478A= MANE Select | ENSP00000261590.8:p.Asn493= |
| NM_001943.3:c.1478A= , LRG_397t1:c.1478A= | NP_001934.2:p.Asn493= |
| NM_001943.4:c.1478A= | NP_001934.2:p.Asn493= |
| ENST00000261590.12:c.1478A= | ENSP00000261590.8:p.Asn493= |
| XM_024451095.1:c.944A= | XP_024306863.1:p.Asn315= |