Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288637C= , CM000683.2:g.44288637C= | GRCh38 |
| NC_000021.8:g.45708520C= , CM000683.1:g.45708520C= | GRCh37 |
| NC_000021.7:g.44532948C= | NCBI36 |
| NG_009556.1:g.7758C= , LRG_18:g.7758C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.652+179C= MANE Select | ENSP00000291582.5:n.652+179C= | |
| ENST00000291582.5:c.652+179C= | ENSP00000291582.5:n.652+179C= | |
| ENST00000527919.5:n.1196+179C= | ||
| ENST00000530812.5:n.1383C= | ||
| NM_000383.3:c.652+179C= | NP_000374.1:n.652+179C= | |
| XM_011529551.1:c.652+179C= | XP_011527853.1:n.652+179C= | |
| NM_000383.4:c.652+179C= MANE Select | NP_000374.1:n.652+179C= |