Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375091A= , CM000679.2:g.44375091A= | GRCh38 |
| NC_000017.10:g.42452459A= , CM000679.1:g.42452459A= | GRCh37 |
| NC_000017.9:g.39807985A= | NCBI36 |
| NG_008331.1:g.19415T= , LRG_479:g.19415T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2748T= MANE Select | ENSP00000262407.5:p.Cys916= | |
| ENST00000648408.1:c.2179T= | ||
| ENST00000262407.5:c.2748T= | ENSP00000262407.5:p.Cys916= | |
| ENST00000587295.5:c.253+742T= | ||
| ENST00000592462.5:n.2022T= | ||
| NM_000419.3:c.2748T= , LRG_479t1:c.2748T= | NP_000410.2:p.Cys916= | |
| XM_011524749.1:c.2748T= | XP_011523051.1:p.Cys916= | |
| XM_011524750.1:c.2748T= | XP_011523052.1:p.Cys916= | |
| NM_000419.4:c.2748T= | NP_000410.2:p.Cys916= | |
| NM_000419.5:c.2748T= MANE Select | NP_000410.2:p.Cys916= |