Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.147613811G>A , CM000668.2:g.147613811G>A | GRCh38 |
| NC_000006.11:g.147934947G>A , CM000668.1:g.147934947G>A | GRCh37 |
| NC_000006.10:g.147976640G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000566741.1:c.162+104424G>A | ENSP00000456528.1:n.162+104424G>A |
| XM_011535819.1:c.459+104424G>A | XP_011534121.1:n.459+104424G>A |
| XM_017010850.1:c.459+104424G>A | XP_016866339.1:n.459+104424G>A |