Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191694C= , CM000666.2:g.186191694C= | GRCh38 |
| NC_000004.11:g.187112848C= , CM000666.1:g.187112848C= | GRCh37 |
| NC_000004.10:g.187349842C= | NCBI36 |
| NG_007965.1:g.5175C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-130C= MANE Select | ENSP00000368079.4:n.-130C= | |
| ENST00000378802.4:c.-130C= | ENSP00000368079.4:n.-130C= | |
| NM_207352.3:c.-130C= | NP_997235.3:n.-130C= | |
| XM_005262935.2:c.-130C= | XP_005262992.1:n.-130C= | |
| XM_017008037.1:c.-440C= | XP_016863526.1:n.-440C= | |
| NM_207352.4:c.-130C= MANE Select | NP_997235.3:n.-130C= |