Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6123410G>A , CM000682.2:g.6123410G>A | GRCh38 |
| NC_000020.10:g.6104057G>A , CM000682.1:g.6104057G>A | GRCh37 |
| NC_000020.9:g.6052057G>A | NCBI36 |
| NG_016213.1:g.5135C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.4:c.-655C>T | NP_060141.3:n.-655C>T |
| ENST00000217289.8:c.-655C>T | ENSP00000217289.4:n.-655C>T |
| XM_024451935.1:c.-658C>T | XP_024307703.1:n.-658C>T |