Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030456C= , CM000666.2:g.43030456C= | GRCh38 |
| NC_000004.11:g.43032473C= , CM000666.1:g.43032473C= | GRCh37 |
| NC_000004.10:g.42727230C= | NCBI36 |
| NG_027718.1:g.142191C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.789C= MANE Select | NP_001073945.1:p.Asn263= |
| ENST00000399770.3:c.789C= MANE Select | ENSP00000382670.2:p.Asn263= |
| NM_001080476.2:c.789C= | NP_001073945.1:p.Asn263= |
| ENST00000399770.2:c.789C= | ENSP00000382670.2:p.Asn263= |
| XM_011513691.1:c.426C= | XP_011511993.1:p.Asn142= |