Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6123109C>G , CM000682.2:g.6123109C>G | GRCh38 |
| NC_000020.10:g.6103756C>G , CM000682.1:g.6103756C>G | GRCh37 |
| NC_000020.9:g.6051756C>G | NCBI36 |
| NG_016213.1:g.5436G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.4:c.-354G>C | NP_060141.3:n.-354G>C |
| ENST00000217289.8:c.-354G>C | ENSP00000217289.4:n.-354G>C |
| ENST00000699096.1:n.106G>C | |
| XM_024451935.1:c.-357G>C | XP_024307703.1:n.-357G>C |