Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288460T= , CM000683.2:g.44288460T= | GRCh38 |
| NC_000021.8:g.45708343T= , CM000683.1:g.45708343T= | GRCh37 |
| NC_000021.7:g.44532771T= | NCBI36 |
| NG_009556.1:g.7581T= , LRG_18:g.7581T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+2T= MANE Select | ENSP00000291582.5:n.652+2T= | |
| ENST00000291582.5:c.652+2T= | ENSP00000291582.5:n.652+2T= | |
| ENST00000527919.5:n.1196+2T= | ||
| ENST00000530812.5:n.1206T= | ||
| NM_000383.3:c.652+2T= | NP_000374.1:n.652+2T= | |
| XM_011529551.1:c.652+2T= | XP_011527853.1:n.652+2T= | |
| NM_000383.4:c.652+2T= MANE Select | NP_000374.1:n.652+2T= |