Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86184814G>A , CM000672.2:g.86184814G>A | GRCh38 |
| NC_000010.10:g.87944571G>A , CM000672.1:g.87944571G>A | GRCh37 |
| NC_000010.9:g.87934551G>A | NCBI36 |
| NG_011875.1:g.186680C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017551.3:c.520+21550C>T MANE Select | NP_060021.1:n.520+21550C>T |
| ENST00000327946.12:c.520+21550C>T MANE Select | ENSP00000330148.7:n.520+21550C>T |
| NM_017551.2:c.520+21550C>T | NP_060021.1:n.520+21550C>T |
| ENST00000327946.11:c.520+21550C>T | ENSP00000330148.7:n.520+21550C>T |
| ENST00000464741.2:c.520+21550C>T | ENSP00000433064.1:n.520+21550C>T |
| XM_011539720.1:c.520+21550C>T | XP_011538022.1:n.520+21550C>T |
| XM_011539720.2:c.520+21550C>T | XP_011538022.1:n.520+21550C>T |