Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191699C>A , CM000666.2:g.186191699C>A | GRCh38 |
| NC_000004.11:g.187112853C>A , CM000666.1:g.187112853C>A | GRCh37 |
| NC_000004.10:g.187349847C>A | NCBI36 |
| NG_007965.1:g.5180C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-125C>A MANE Select | ENSP00000368079.4:n.-125C>A | |
| ENST00000378802.4:c.-125C>A | ENSP00000368079.4:n.-125C>A | |
| NM_207352.3:c.-125C>A | NP_997235.3:n.-125C>A | |
| XM_005262935.2:c.-125C>A | XP_005262992.1:n.-125C>A | |
| XM_017008037.1:c.-435C>A | XP_016863526.1:n.-435C>A | |
| NM_207352.4:c.-125C>A MANE Select | NP_997235.3:n.-125C>A |