Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256675C>T , CM000666.2:g.3256675C>T | GRCh38 |
| NC_000004.11:g.3258402C>T , CM000666.1:g.3258402C>T | GRCh37 |
| NC_000004.10:g.3228200C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+818C>T | ENSP00000425405.1:n.729+818C>T | |
| ENST00000510580.1:c.765+782C>T | ENSP00000420966.1:n.765+782C>T | |
| XM_011513464.1:c.729+818C>T | XP_011511766.1:n.729+818C>T | |
| XR_924950.1:n.753+818C>T |