Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472440T= , CM000677.2:g.40472440T= | GRCh38 |
| NC_000015.9:g.40764639T= , CM000677.1:g.40764639T= | GRCh37 |
| NC_000015.8:g.38551931T= | NCBI36 |
| NG_017074.1:g.6480T= , LRG_600:g.6480T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.*96T= MANE Select | ENSP00000307297.6:n.*96T= | |
| ENST00000306243.6:c.*96T= | ENSP00000307297.5:n.*96T= | |
| ENST00000559991.1:c.*96T= | ENSP00000453882.1:n.*96T= | |
| NM_130468.3:c.*96T= , LRG_600t1:c.*96T= | NP_569735.1:n.*96T= | |
| NM_130468.4:c.*96T= MANE Select | NP_569735.1:n.*96T= |