Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4710583G>T , CM000679.2:g.4710583G>T | GRCh38 |
| NC_000017.10:g.4613878G>T , CM000679.1:g.4613878G>T | GRCh37 |
| NC_000017.9:g.4560627G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269260.6:c.-139G>T | ENSP00000269260.2:n.-139G>T | |
| NM_001257328.1:c.-139G>T | NP_001244257.1:n.-139G>T | |
| NM_001257329.1:c.-139G>T | NP_001244258.1:n.-139G>T | |
| NM_001257330.1:c.-139G>T | NP_001244259.1:n.-139G>T | |
| NM_001257331.1:c.-139G>T | NP_001244260.1:n.-139G>T | |
| NM_004313.3:c.-139G>T | NP_004304.1:n.-139G>T | |
| NM_199004.1:c.-139G>T | NP_945355.1:n.-139G>T | |
| NR_047516.1:n.90G>T | ||
| NM_001330064.1:c.-639G>T | NP_001316993.1:n.-639G>T |