Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191696A>C , CM000666.2:g.186191696A>C | GRCh38 |
| NC_000004.11:g.187112850A>C , CM000666.1:g.187112850A>C | GRCh37 |
| NC_000004.10:g.187349844A>C | NCBI36 |
| NG_007965.1:g.5177A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-128A>C MANE Select | ENSP00000368079.4:n.-128A>C | |
| ENST00000378802.4:c.-128A>C | ENSP00000368079.4:n.-128A>C | |
| NM_207352.3:c.-128A>C | NP_997235.3:n.-128A>C | |
| XM_005262935.2:c.-128A>C | XP_005262992.1:n.-128A>C | |
| XM_017008037.1:c.-438A>C | XP_016863526.1:n.-438A>C | |
| NM_207352.4:c.-128A>C MANE Select | NP_997235.3:n.-128A>C |