Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89285009T>G , CM000673.2:g.89285009T>G | GRCh38 |
| NC_000011.9:g.89018177T>G , CM000673.1:g.89018177T>G | GRCh37 |
| NC_000011.8:g.88657825T>G | NCBI36 |
| NG_008748.1:g.112138T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1366+55T>G MANE Select | ENSP00000263321.4:n.1366+55T>G | |
| ENST00000263321.5:c.1366+55T>G | ENSP00000263321.4:n.1366+55T>G | |
| ENST00000528243.1:n.364+55T>G | ||
| NM_000372.4:c.1366+55T>G | NP_000363.1:n.1366+55T>G | |
| XM_011542970.1:c.1366+55T>G | XP_011541272.1:n.1366+55T>G | |
| XM_011542970.2:c.1366+55T>G | XP_011541272.1:n.1366+55T>G | |
| XR_001748321.1:n.2456+1025A>C | ||
| XR_001748322.1:n.2457+1025A>C | ||
| NM_000372.5:c.1366+55T>G MANE Select | NP_000363.1:n.1366+55T>G |