Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372241G= , CM000679.2:g.44372241G= | GRCh38 |
| NC_000017.10:g.42449609G= , CM000679.1:g.42449609G= | GRCh37 |
| NC_000017.9:g.39805135G= | NCBI36 |
| NG_008331.1:g.22265C= , LRG_479:g.22265C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*123C= MANE Select | ENSP00000262407.5:n.*123C= | |
| ENST00000648408.1:c.2557C= | ||
| ENST00000262407.5:c.*123C= | ENSP00000262407.5:n.*123C= | |
| ENST00000587295.5:c.436C= | ||
| ENST00000588098.1:c.220C= | ||
| NM_000419.3:c.*123C= , LRG_479t1:c.*123C= | NP_000410.2:n.*123C= | |
| XM_011524749.1:c.*123C= | XP_011523051.1:n.*123C= | |
| XM_011524750.1:c.*123C= | XP_011523052.1:n.*123C= | |
| NM_000419.4:c.*123C= | NP_000410.2:n.*123C= | |
| NM_000419.5:c.*123C= MANE Select | NP_000410.2:n.*123C= |