Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85465311G>A , CM000670.2:g.85465311G>A | GRCh38 |
| NC_000008.10:g.86377540G>A , CM000670.1:g.86377540G>A | GRCh37 |
| NC_000008.9:g.86564792G>A | NCBI36 |
| NG_007287.1:g.6295G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000067.3:c.74G>A MANE Select | NP_000058.1:p.Gly25Glu |
| ENST00000285379.10:c.74G>A MANE Select | ENSP00000285379.4:p.Gly25Glu |
| NM_000067.2:c.74G>A | NP_000058.1:p.Gly25Glu |
| NM_001293675.1:c.-111G>A | NP_001280604.1:n.-111G>A |
| NM_001293675.2:c.-111G>A | NP_001280604.1:n.-111G>A |
| ENST00000285379.9:c.74G>A | ENSP00000285379.4:p.Gly25Glu |
| ENST00000518231.1:n.145G>A | |
| ENST00000520127.5:c.74G>A | ENSP00000428443.1:p.Gly25Glu |
| ENST00000520996.5:n.153G>A | |
| ENST00000522742.1:c.74G>A | ENSP00000428947.1:p.Gly25Glu |