Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.85875167C>A , CM000672.2:g.85875167C>A | GRCh38 |
| NC_000010.10:g.87634924C>A , CM000672.1:g.87634924C>A | GRCh37 |
| NC_000010.9:g.87624904C>A | NCBI36 |
| NG_011875.1:g.496327G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017551.3:c.781-5987G>T MANE Select | NP_060021.1:n.781-5987G>T |
| ENST00000327946.12:c.781-5987G>T MANE Select | ENSP00000330148.7:n.781-5987G>T |
| NM_017551.2:c.781-5987G>T | NP_060021.1:n.781-5987G>T |
| ENST00000327946.11:c.781-5987G>T | ENSP00000330148.7:n.781-5987G>T |
| ENST00000464741.2:c.781-5987G>T | ENSP00000433064.1:n.781-5987G>T |
| ENST00000536331.5:c.1-5987G>T | ENSP00000444455.2:n.1-5987G>T |
| XM_011539720.1:c.781-5987G>T | XP_011538022.1:n.781-5987G>T |
| XM_011539720.2:c.781-5987G>T | XP_011538022.1:n.781-5987G>T |