Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256863A>C , CM000666.2:g.3256863A>C | GRCh38 |
| NC_000004.11:g.3258590A>C , CM000666.1:g.3258590A>C | GRCh37 |
| NC_000004.10:g.3228388A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+1006A>C | ENSP00000425405.1:n.729+1006A>C | |
| ENST00000510580.1:c.765+970A>C | ENSP00000420966.1:n.765+970A>C | |
| XM_011513464.1:c.729+1006A>C | XP_011511766.1:n.729+1006A>C | |
| XR_924950.1:n.753+1006A>C |