Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89285074C>A , CM000673.2:g.89285074C>A | GRCh38 |
| NC_000011.9:g.89018242C>A , CM000673.1:g.89018242C>A | GRCh37 |
| NC_000011.8:g.88657890C>A | NCBI36 |
| NG_008748.1:g.112203C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1366+120C>A MANE Select | ENSP00000263321.4:n.1366+120C>A | |
| ENST00000263321.5:c.1366+120C>A | ENSP00000263321.4:n.1366+120C>A | |
| ENST00000528243.1:n.364+120C>A | ||
| NM_000372.4:c.1366+120C>A | NP_000363.1:n.1366+120C>A | |
| XM_011542970.1:c.1366+120C>A | XP_011541272.1:n.1366+120C>A | |
| XM_011542970.2:c.1366+120C>A | XP_011541272.1:n.1366+120C>A | |
| XR_001748321.1:n.2456+960G>T | ||
| XR_001748322.1:n.2457+960G>T | ||
| NM_000372.5:c.1366+120C>A MANE Select | NP_000363.1:n.1366+120C>A |