Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35797549T>C , CM000668.2:g.35797549T>C | GRCh38 |
| NC_000006.11:g.35765326T>C , CM000668.1:g.35765326T>C | GRCh37 |
| NC_000006.10:g.35873304T>C | NCBI36 |
| NG_012184.3:g.5344T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651132.1:c.-255+90T>C | ENSP00000498322.1:n.-255+90T>C | |
| XM_011514403.1:c.-135+90T>C | XP_011512705.1:n.-135+90T>C |