Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922948A>G , CM000679.2:g.74922948A>G | GRCh38 |
| NC_000017.10:g.72919043A>G , CM000679.1:g.72919043A>G | GRCh37 |
| NC_000017.9:g.70430638A>G | NCBI36 |
| NG_007882.1:g.5309T>C | |
| NG_033062.1:g.3674A>G | |
| NG_007882.2:g.5316T>C | |
| NG_033062.2:g.3674A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173477.5:c.126T>C MANE Select | NP_775748.2:p.His42= |
| ENST00000614341.5:c.126T>C MANE Select | ENSP00000480279.1:p.His42= |
| NM_001282489.2:c.-131T>C | NP_001269418.1:n.-131T>C |
| NM_001282489.3:c.-131T>C | NP_001269418.1:n.-131T>C |
| NM_173477.4:c.126T>C | NP_775748.2:p.His42= |
| ENST00000579243.1:c.126T>C | ENSP00000462568.1:p.His42= |
| ENST00000614341.4:c.126T>C | ENSP00000480279.1:p.His42= |