Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14129439C= , CM000665.2:g.14129439C= | GRCh38 |
| NC_000003.11:g.14170939C= , CM000665.1:g.14170939C= | GRCh37 |
| NC_000003.10:g.14145940C= | NCBI36 |
| NG_008975.1:g.9500C= , LRG_435:g.9500C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*70C= | ENSP00000395617.1:n.*70C= | |
| ENST00000306077.5:c.40C= MANE Select | ENSP00000303992.5:p.His14= | |
| ENST00000306077.4:c.40C= | ENSP00000303992.4:p.His14= | |
| ENST00000432444.1:c.*70C= | ENSP00000395617.1:n.*70C= | |
| NM_024334.2:c.40C= , LRG_435t1:c.40C= | NP_077310.1:p.His14= | |
| XM_011534109.1:c.-66C= | XP_011532411.1:n.-66C= | |
| XM_017007176.2:c.-66C= | XP_016862665.1:n.-66C= | |
| NM_024334.3:c.40C= MANE Select | NP_077310.1:p.His14= |