Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20455138A>C , CM000676.2:g.20455138A>C | GRCh38 |
| NC_000014.8:g.20923297A>C , CM000676.1:g.20923297A>C | GRCh37 |
| NC_000014.7:g.19993137A>C | NCBI36 |
| NG_008718.1:g.5008A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001244249.1:c.-320A>C | NP_001231178.1:n.-320A>C |
| NM_001641.3:c.-325A>C | NP_001632.2:n.-325A>C |
| NM_080648.2:c.-259A>C | NP_542379.1:n.-259A>C |
| NM_080649.2:c.-269A>C | NP_542380.1:n.-269A>C |