Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.48920718G>A , CM000670.2:g.48920718G>A | GRCh38 |
| NC_000008.10:g.49833277G>A , CM000670.1:g.49833277G>A | GRCh37 |
| NC_000008.9:g.49995830G>A | NCBI36 |
| NG_012130.1:g.5712C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000020945.4:c.80-277C>T MANE Select | ENSP00000020945.1:n.80-277C>T | |
| ENST00000396822.6:c.80-277C>T | ENSP00000380034.2:n.80-277C>T | |
| ENST00000649776.1:n.255-277C>T | ||
| ENST00000020945.2:c.80-277C>T | ENSP00000020945.1:n.80-277C>T | |
| ENST00000396822.5:c.80-277C>T | ENSP00000380034.1:n.80-277C>T | |
| NM_003068.4:c.80-277C>T | NP_003059.1:n.80-277C>T | |
| NM_003068.5:c.80-277C>T MANE Select | NP_003059.1:n.80-277C>T |