Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154733269T>A , CM000666.2:g.154733269T>A | GRCh38 |
| NC_000004.11:g.155654421T>A , CM000666.1:g.155654421T>A | GRCh37 |
| NC_000004.10:g.155873871T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000499392.1:n.471+1483T>A | |
| ENST00000502525.5:c.-2+4486T>A | ENSP00000422324.1:n.-2+4486T>A |
| XM_006714412.2:c.-2+4486T>A | XP_006714475.1:n.-2+4486T>A |