Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.85848770C= , CM000672.2:g.85848770C= | GRCh38 |
| NC_000010.10:g.87608527C= , CM000672.1:g.87608527C= | GRCh37 |
| NC_000010.9:g.87598507C= | NCBI36 |
| NG_011875.1:g.522724G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327946.12:c.1233+5726G= MANE Select | ENSP00000330148.7:n.1233+5726G= | |
| ENST00000327946.11:c.1233+5726G= | ENSP00000330148.7:n.1233+5726G= | |
| ENST00000464741.2:c.1233+5726G= | ENSP00000433064.1:n.1233+5726G= | |
| ENST00000536331.5:c.453+5726G= | ENSP00000444455.2:n.453+5726G= | |
| NM_017551.2:c.1233+5726G= | NP_060021.1:n.1233+5726G= | |
| XM_011539720.1:c.1233+5726G= | XP_011538022.1:n.1233+5726G= | |
| XM_011539720.2:c.1233+5726G= | XP_011538022.1:n.1233+5726G= | |
| NM_017551.3:c.1233+5726G= MANE Select | NP_060021.1:n.1233+5726G= |