Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767420C>G , CM000676.2:g.28767420C>G | GRCh38 |
| NC_000014.8:g.29236626C>G , CM000676.1:g.29236626C>G | GRCh37 |
| NC_000014.7:g.28306377C>G | NCBI36 |
| NG_009367.1:g.5340C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.141C>G | ENSP00000516406.1:p.His47Gln | |
| ENST00000313071.7:c.141C>G MANE Select | ENSP00000339004.3:p.His47Gln | |
| ENST00000313071.6:c.141C>G | ENSP00000339004.3:p.His47Gln | |
| NM_005249.4:c.141C>G | NP_005240.3:p.His47Gln | |
| NM_005249.5:c.141C>G MANE Select | NP_005240.3:p.His47Gln |