Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516231A>G , CM000679.2:g.75516231A>G | GRCh38 |
| NC_000017.10:g.73512312A>G , CM000679.1:g.73512312A>G | GRCh37 |
| NC_000017.9:g.71023907A>G | NCBI36 |
| NG_013041.1:g.4704A>G | |
| NG_033152.1:g.4353T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-238A>G | ENSP00000406559.4:n.-238A>G | |
| ENST00000679370.1:n.288A>G | ||
| ENST00000434205.7:c.-238A>G | ENSP00000406559.3:n.-238A>G | |
| XM_006721821.2:c.-403A>G | XP_006721884.1:n.-403A>G |