Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112025389T>C , CM000673.2:g.112025389T>C | GRCh38 |
| NC_000011.9:g.111896113T>C , CM000673.1:g.111896113T>C | GRCh37 |
| NC_000011.8:g.111401323T>C | NCBI36 |
| NG_013342.1:g.5576T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.-84T>C | ENSP00000518862.1:n.-84T>C | |
| ENST00000280346.10:c.-84T>C | ENSP00000280346.6:n.-84T>C | |
| NM_001931.4:c.-84T>C | NP_001922.2:n.-84T>C | |
| XM_011542647.1:c.-84T>C | XP_011540949.1:n.-84T>C | |
| XM_011542647.3:c.-84T>C | XP_011540949.1:n.-84T>C |