Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176912T= , CM000678.2:g.176912T= | GRCh38 |
| NC_000016.9:g.226911T= , CM000678.1:g.226911T= | GRCh37 |
| NC_000016.8:g.166911T= | NCBI36 |
| NG_000006.1:g.37775T= | |
| NG_059186.1:g.5262T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.96-17T= MANE Select | ENSP00000322421.5:n.96-17T= | |
| ENST00000397797.1:c.-1-17T= | ENSP00000380899.1:n.-1-17T= | |
| ENST00000472694.1:n.215T= | ||
| ENST00000487791.1:n.65-17T= | ||
| NM_000558.4:c.96-17T= | NP_000549.1:n.96-17T= | |
| NM_000558.5:c.96-17T= MANE Select | NP_000549.1:n.96-17T= |