Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256646A>T , CM000666.2:g.3256646A>T | GRCh38 |
| NC_000004.11:g.3258373A>T , CM000666.1:g.3258373A>T | GRCh37 |
| NC_000004.10:g.3228171A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505599.5:c.729+789A>T | ENSP00000425405.1:n.729+789A>T | |
| ENST00000510580.1:c.765+753A>T | ENSP00000420966.1:n.765+753A>T | |
| XM_011513464.1:c.729+789A>T | XP_011511766.1:n.729+789A>T | |
| XR_924950.1:n.753+789A>T |