Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6720542G>C , CM000681.2:g.6720542G>C | GRCh38 |
| NC_000019.9:g.6720553G>C , CM000681.1:g.6720553G>C | GRCh37 |
| NC_000019.8:g.6671553G>C | NCBI36 |
| NG_009557.1:g.5110C>G , LRG_27:g.5110C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.48C>G MANE Select | NP_000055.2:p.His16Gln |
| ENST00000245907.11:c.48C>G MANE Select | ENSP00000245907.4:p.His16Gln |
| NM_000064.3:c.48C>G | NP_000055.2:p.His16Gln |
| ENST00000245907.10:c.48C>G | ENSP00000245907.4:p.His16Gln |
| ENST00000594936.1:n.109C>G | |
| ENST00000594936.2:n.109C>G | |
| ENST00000600744.1:c.-49-1139C>G | ENSP00000472044.1:n.-49-1139C>G |
| ENST00000695652.1:c.-311C>G | ENSP00000512083.1:n.-311C>G |
| ENST00000695693.1:c.48C>G | ENSP00000512104.1:p.His16Gln |