Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6269927G>C , CM000666.2:g.6269927G>C | GRCh38 |
| NC_000004.11:g.6271654G>C , CM000666.1:g.6271654G>C | GRCh37 |
| NC_000004.10:g.6322555G>C | NCBI36 |
| NG_011700.1:g.5078G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006005.3:c.-93G>C MANE Select | NP_005996.2:n.-93G>C |
| ENST00000226760.5:c.-93G>C MANE Select | ENSP00000226760.1:n.-93G>C |
| NM_001145853.1:c.-89G>C | NP_001139325.1:n.-89G>C |
| ENST00000503569.5:c.-89G>C | ENSP00000423337.1:n.-89G>C |
| ENST00000506588.5:n.78G>C | |
| ENST00000506588.6:n.78G>C | |
| ENST00000673991.1:c.-89G>C | ENSP00000501033.1:n.-89G>C |
| ENST00000682275.1:c.-93G>C | ENSP00000507852.1:n.-93G>C |
| XM_017008586.1:c.5-7524G>C | XP_016864075.1:n.5-7524G>C |