Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768445G= , CM000663.2:g.115768445G= | GRCh38 |
| NC_000001.10:g.116311066G= , CM000663.1:g.116311066G= | GRCh37 |
| NC_000001.9:g.116112589G= | NCBI36 |
| NG_008802.1:g.5361C= , LRG_404:g.5361C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.97C= MANE Select | NP_001223.2:p.Arg33= |
| ENST00000261448.6:c.97C= MANE Select | ENSP00000261448.5:p.Arg33= |
| NM_001232.3:c.97C= , LRG_404t1:c.97C= | NP_001223.2:p.Arg33= |
| ENST00000261448.5:c.97C= | ENSP00000261448.5:p.Arg33= |
| ENST00000488931.2:c.-180C= | ENSP00000518226.1:n.-180C= |