Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194522G>A , CM000666.2:g.186194522G>A | GRCh38 |
| NC_000004.11:g.187115676G>A , CM000666.1:g.187115676G>A | GRCh37 |
| NC_000004.10:g.187352670G>A | NCBI36 |
| NG_007965.1:g.8003G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207352.4:c.237G>A MANE Select | NP_997235.3:p.Glu79= |
| ENST00000378802.5:c.237G>A MANE Select | ENSP00000368079.4:p.Glu79= |
| NM_207352.3:c.237G>A | NP_997235.3:p.Glu79= |
| ENST00000378802.4:c.237G>A | ENSP00000368079.4:p.Glu79= |
| XM_005262935.2:c.237G>A | XP_005262992.1:p.Glu79= |
| XM_005262935.4:c.237G>A | XP_005262992.1:p.Glu79= |
| XM_017008037.1:c.-74G>A | XP_016863526.1:n.-74G>A |