Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191800A= , CM000666.2:g.186191800A= | GRCh38 |
| NC_000004.11:g.187112954A= , CM000666.1:g.187112954A= | GRCh37 |
| NC_000004.10:g.187349948A= | NCBI36 |
| NG_007965.1:g.5281A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.-24A= MANE Select | ENSP00000368079.4:n.-24A= | |
| ENST00000378802.4:c.-24A= | ENSP00000368079.4:n.-24A= | |
| NM_207352.3:c.-24A= | NP_997235.3:n.-24A= | |
| XM_005262935.2:c.-24A= | XP_005262992.1:n.-24A= | |
| XM_005262935.4:c.-24A= | XP_005262992.1:n.-24A= | |
| XM_017008037.1:c.-334A= | XP_016863526.1:n.-334A= | |
| NM_207352.4:c.-24A= MANE Select | NP_997235.3:n.-24A= |