Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191704G= , CM000666.2:g.186191704G= | GRCh38 |
| NC_000004.11:g.187112858G= , CM000666.1:g.187112858G= | GRCh37 |
| NC_000004.10:g.187349852G= | NCBI36 |
| NG_007965.1:g.5185G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-120G= MANE Select | ENSP00000368079.4:n.-120G= | |
| ENST00000378802.4:c.-120G= | ENSP00000368079.4:n.-120G= | |
| NM_207352.3:c.-120G= | NP_997235.3:n.-120G= | |
| XM_005262935.2:c.-120G= | XP_005262992.1:n.-120G= | |
| XM_017008037.1:c.-430G= | XP_016863526.1:n.-430G= | |
| NM_207352.4:c.-120G= MANE Select | NP_997235.3:n.-120G= |