Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132127866G= , CM000685.2:g.132127866G= | GRCh38 |
| NC_000023.10:g.131261894G= , CM000685.1:g.131261894G= | GRCh37 |
| NC_000023.9:g.131089575G= | NCBI36 |
| NG_012347.1:g.5157C= , LRG_867:g.5157C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298542.9:c.-22C= MANE Select | ENSP00000298542.3:n.-22C= | |
| ENST00000298542.8:c.-22C= | ENSP00000298542.3:n.-22C= | |
| NM_001306193.1:c.-22C= | NP_001293122.1:n.-22C= | |
| NM_194277.2:c.-22C= , LRG_867t1:c.-22C= | NP_919253.1:n.-22C= | |
| XM_017029948.2:c.-50C= | XP_016885437.1:n.-50C= | |
| NM_001306193.2:c.-22C= | NP_001293122.1:n.-22C= | |
| NM_194277.3:c.-22C= MANE Select | NP_919253.1:n.-22C= |