Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348832C>T , CM000685.2:g.101348832C>T | GRCh38 |
| NC_000023.10:g.100603820C>T , CM000685.1:g.100603820C>T | GRCh37 |
| NC_000023.9:g.100490476C>T | NCBI36 |
| NG_009616.1:g.42393G>A , LRG_128:g.42393G>A | |
| NG_011734.1:g.5138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.3:c.-168G>A | ENSP00000361993.3:n.-168G>A | |
| NM_004085.3:c.-168G>A | NP_004076.1:n.-168G>A |