Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454990T= , CM000676.2:g.20454990T= | GRCh38 |
| NC_000014.8:g.20923149T= , CM000676.1:g.20923149T= | GRCh37 |
| NC_000014.7:g.19992989T= | NCBI36 |
| NG_008718.1:g.4860T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017807.3:c.-307A= | NP_060277.1:n.-307A= |
| ENST00000206542.8:c.-307A= | ENSP00000206542.4:n.-307A= |
| ENST00000556252.1:n.64A= | |
| ENST00000556439.1:n.100A= | |
| XM_011536930.1:c.-368A= | XP_011535232.1:n.-368A= |