Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410987G= , CM000677.2:g.48410987G= | GRCh38 |
| NC_000015.9:g.48703184G= , CM000677.1:g.48703184G= | GRCh37 |
| NC_000015.8:g.46490476G= | NCBI36 |
| NG_008805.2:g.239802C= , LRG_778:g.239802C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1427C= | ENSP00000453958.2:n.*1427C= | |
| ENST00000682158.1:n.2000C= | ||
| ENST00000682170.1:n.2800C= | ||
| ENST00000682767.1:n.1916C= | ||
| ENST00000316623.10:c.*3C= MANE Select | ENSP00000325527.5:n.*3C= | |
| ENST00000316623.9:c.*3C= | ENSP00000325527.5:n.*3C= | |
| ENST00000559133.5:c.3988C= | ||
| NM_000138.4:c.*3C= , LRG_778t1:c.*3C= | NP_000129.3:n.*3C= | |
| NM_000138.5:c.*3C= MANE Select | NP_000129.3:n.*3C= |