Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.23508967G>T , CM000667.2:g.23508967G>T | GRCh38 |
| NC_000005.9:g.23509076G>T , CM000667.1:g.23509076G>T | GRCh37 |
| NC_000005.8:g.23544833G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502755.6:c.-67G>T | ENSP00000425471.2:n.-67G>T | |
| ENST00000296682.4:c.-67G>T MANE Select | ENSP00000296682.4:n.-67G>T | |
| ENST00000296682.3:c.-67G>T | ENSP00000296682.3:n.-67G>T | |
| ENST00000502755.5:c.-67G>T | ENSP00000425471.1:n.-67G>T | |
| ENST00000635252.1:c.17-953G>T | ENSP00000489227.1:n.17-953G>T | |
| NM_020227.2:c.-67G>T | NP_064612.2:n.-67G>T | |
| NM_020227.3:c.-67G>T | NP_064612.2:n.-67G>T | |
| NM_001376900.1:c.-67G>T | NP_001363829.1:n.-67G>T | |
| NM_020227.4:c.-67G>T MANE Select | NP_064612.2:n.-67G>T |