Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797504T>C , CM000668.2:g.35797504T>C | GRCh38 |
| NC_000006.11:g.35765281T>C , CM000668.1:g.35765281T>C | GRCh37 |
| NC_000006.10:g.35873259T>C | NCBI36 |
| NG_012184.3:g.5299T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+45T>C | ENSP00000498322.1:n.-255+45T>C | |
| XM_011514403.1:c.-135+45T>C | XP_011512705.1:n.-135+45T>C |