Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58749813T>G , CM000677.2:g.58749813T>G | GRCh38 |
| NC_000015.9:g.59042012T>G , CM000677.1:g.59042012T>G | GRCh37 |
| NC_000015.8:g.56829304T>G | NCBI36 |
| NG_033876.1:g.5166A>C | |
| NG_033876.2:g.4895A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001110.3:c.-279A>C | NP_001101.1:n.-279A>C |
| NM_001320570.1:c.-279A>C | NP_001307499.1:n.-279A>C |
| ENST00000260408.7:c.-279A>C | ENSP00000260408.3:n.-279A>C |