Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5202332G>T , CM000672.2:g.5202332G>T | GRCh38 |
| NC_000010.10:g.5244295G>T , CM000672.1:g.5244295G>T | GRCh37 |
| NC_000010.9:g.5234295G>T | NCBI36 |
| NG_031872.1:g.10498G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001818.5:c.252+1984G>T MANE Select | NP_001809.4:n.252+1984G>T |
| ENST00000263126.3:c.252+1984G>T MANE Select | ENSP00000263126.1:n.252+1984G>T |
| NM_001818.3:c.252+1984G>T | NP_001809.3:n.252+1984G>T |
| NM_001818.4:c.252+1984G>T | NP_001809.3:n.252+1984G>T |
| ENST00000263126.2:c.252+1984G>T | ENSP00000263126.1:n.252+1984G>T |
| ENST00000380448.5:c.252+1984G>T | ENSP00000369814.1:n.252+1984G>T |
| XM_011519303.1:c.252+1984G>T | XP_011517605.1:n.252+1984G>T |