Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524526C= , CM000680.2:g.31524526C= | GRCh38 |
| NC_000018.9:g.29104489C= , CM000680.1:g.29104489C= | GRCh37 |
| NC_000018.8:g.27358487C= | NCBI36 |
| NG_007072.3:g.31285C= , LRG_397:g.31285C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.769C= MANE Select | NP_001934.2:p.Gln257= |
| ENST00000261590.13:c.769C= MANE Select | ENSP00000261590.8:p.Gln257= |
| NM_001943.3:c.769C= , LRG_397t1:c.769C= | NP_001934.2:p.Gln257= |
| NM_001943.4:c.769C= | NP_001934.2:p.Gln257= |
| ENST00000261590.12:c.769C= | ENSP00000261590.8:p.Gln257= |
| ENST00000682087.1:c.600C= | |
| ENST00000682087.2:n.600C= | |
| ENST00000683614.1:c.600C= | |
| ENST00000683614.2:n.600C= | |
| XM_024451095.1:c.235C= | XP_024306863.1:p.Gln79= |