Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960283A= , CM000670.2:g.47960283A= | GRCh38 |
| NC_000008.10:g.48872843A= , CM000670.1:g.48872843A= | GRCh37 |
| NC_000008.9:g.49035396A= | NCBI36 |
| NG_023435.1:g.4901T= , LRG_162:g.4901T= | |
| NG_032967.1:g.5081A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-52A= | ENSP00000430329.1:n.-52A= | |
| NM_005914.3:c.-862A= | NP_005905.2:n.-862A= | |
| NM_182746.2:c.-746A= | NP_877423.1:n.-746A= | |
| XM_005251234.1:c.-1108A= | XP_005251291.1:n.-1108A= |