Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348834G= , CM000685.2:g.101348834G= | GRCh38 |
| NC_000023.10:g.100603822G= , CM000685.1:g.100603822G= | GRCh37 |
| NC_000023.9:g.100490478G= | NCBI36 |
| NG_009616.1:g.42391C= , LRG_128:g.42391C= | |
| NG_011734.1:g.5136C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.3:c.-170C= | ENSP00000361993.3:n.-170C= | |
| NM_004085.3:c.-170C= | NP_004076.1:n.-170C= |