Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541219C= , CM000680.2:g.31541219C= | GRCh38 |
| NC_000018.9:g.29121182C= , CM000680.1:g.29121182C= | GRCh37 |
| NC_000018.8:g.27375180C= | NCBI36 |
| NG_007072.3:g.47978C= , LRG_397:g.47978C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1906C= MANE Select | ENSP00000261590.8:p.His636= | |
| ENST00000261590.12:c.1906C= | ENSP00000261590.8:p.His636= | |
| NM_001943.3:c.1906C= , LRG_397t1:c.1906C= | NP_001934.2:p.His636= | |
| NM_001943.4:c.1906C= | NP_001934.2:p.His636= | |
| XM_024451095.1:c.1372C= | XP_024306863.1:p.His458= | |
| NM_001943.5:c.1906C= MANE Select | NP_001934.2:p.His636= |