Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26576461G= , CM000680.2:g.26576461G= | GRCh38 |
| NC_000018.9:g.24156425G= , CM000680.1:g.24156425G= | GRCh37 |
| NC_000018.8:g.22410423G= | NCBI36 |
| NG_054919.1:g.86052C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001258222.1:c.10-75211C= | NP_001245151.1:n.10-75211C= |
| NM_001258222.2:c.10-75211C= | NP_001245151.1:n.10-75211C= |
| NM_001258222.3:c.10-75211C= | NP_001245151.1:n.10-75211C= |
| NM_198991.3:c.-16+52686C= | NP_945342.1:n.-16+52686C= |
| NM_198991.4:c.-16+52686C= | NP_945342.1:n.-16+52686C= |
| ENST00000317932.11:c.-16+52686C= | ENSP00000314831.7:n.-16+52686C= |
| ENST00000579973.5:c.-16+52686C= | ENSP00000464170.1:n.-16+52686C= |
| ENST00000580191.5:c.10-75211C= | ENSP00000464261.1:n.10-75211C= |