Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348866C>G , CM000685.2:g.101348866C>G | GRCh38 |
| NC_000023.10:g.100603854C>G , CM000685.1:g.100603854C>G | GRCh37 |
| NC_000023.9:g.100490510C>G | NCBI36 |
| NG_009616.1:g.42359G>C , LRG_128:g.42359G>C | |
| NG_011734.1:g.5104G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.3:c.-202G>C | ENSP00000361993.3:n.-202G>C | |
| NM_004085.3:c.-202G>C | NP_004076.1:n.-202G>C |