Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69035718G>T , CM000671.2:g.69035718G>T | GRCh38 |
| NC_000009.11:g.71650634G>T , CM000671.1:g.71650634G>T | GRCh37 |
| NC_000009.10:g.70840454G>T | NCBI36 |
| NG_008845.2:g.5156G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377270.7:c.-65G>T | ENSP00000366482.3:n.-65G>T | |
| ENST00000396364.7:c.-65G>T | ENSP00000379650.3:n.-65G>T | |
| NM_000144.4:c.-65G>T | NP_000135.2:n.-65G>T | |
| NM_001161706.1:c.-65G>T | NP_001155178.1:n.-65G>T | |
| NM_181425.2:c.-65G>T | NP_852090.1:n.-65G>T |