Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375089G= , CM000679.2:g.44375089G= | GRCh38 |
| NC_000017.10:g.42452457G= , CM000679.1:g.42452457G= | GRCh37 |
| NC_000017.9:g.39807983G= | NCBI36 |
| NG_008331.1:g.19417C= , LRG_479:g.19417C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2750C= MANE Select | ENSP00000262407.5:p.Thr917= | |
| ENST00000648408.1:c.2181C= | ||
| ENST00000262407.5:c.2750C= | ENSP00000262407.5:p.Thr917= | |
| ENST00000587295.5:c.253+744C= | ||
| ENST00000592462.5:n.2024C= | ||
| NM_000419.3:c.2750C= , LRG_479t1:c.2750C= | NP_000410.2:p.Thr917= | |
| XM_011524749.1:c.2750C= | XP_011523051.1:p.Thr917= | |
| XM_011524750.1:c.2750C= | XP_011523052.1:p.Thr917= | |
| NM_000419.4:c.2750C= | NP_000410.2:p.Thr917= | |
| NM_000419.5:c.2750C= MANE Select | NP_000410.2:p.Thr917= |