Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256823C= , CM000666.2:g.3256823C= | GRCh38 |
| NC_000004.11:g.3258550C= , CM000666.1:g.3258550C= | GRCh37 |
| NC_000004.10:g.3228348C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+966C= | ENSP00000425405.1:n.729+966C= | |
| ENST00000510580.1:c.765+930C= | ENSP00000420966.1:n.765+930C= | |
| XM_011513464.1:c.729+966C= | XP_011511766.1:n.729+966C= | |
| XR_924950.1:n.753+966C= |