Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6122940T>C , CM000682.2:g.6122940T>C | GRCh38 |
| NC_000020.10:g.6103587T>C , CM000682.1:g.6103587T>C | GRCh37 |
| NC_000020.9:g.6051587T>C | NCBI36 |
| NG_016213.1:g.5605A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.-185A>G MANE Select | NP_060141.3:n.-185A>G |
| ENST00000217289.9:c.-185A>G MANE Select | ENSP00000217289.4:n.-185A>G |
| NM_017671.4:c.-185A>G | NP_060141.3:n.-185A>G |
| ENST00000217289.8:c.-185A>G | ENSP00000217289.4:n.-185A>G |
| ENST00000536936.1:c.-725A>G | ENSP00000441063.1:n.-725A>G |
| ENST00000699095.1:c.-3386A>G | ENSP00000514127.1:n.-3386A>G |
| ENST00000699096.1:n.275A>G | |
| XM_024451935.1:c.-188A>G | XP_024307703.1:n.-188A>G |