Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31668493T= , CM000683.2:g.31668493T= | GRCh38 |
| NC_000021.8:g.33040806T= , CM000683.1:g.33040806T= | GRCh37 |
| NC_000021.7:g.31962677T= | NCBI36 |
| NG_008689.1:g.13872T= , LRG_652:g.13872T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.380T= MANE Select | NP_000445.1:p.Leu127= |
| ENST00000270142.11:c.380T= MANE Select | ENSP00000270142.7:p.Leu127= |
| NM_000454.4:c.380T= , LRG_652t1:c.380T= | NP_000445.1:p.Leu127= |
| ENST00000270142.10:c.380T= | ENSP00000270142.6:p.Leu127= |
| ENST00000389995.4:c.323T= | ENSP00000374645.4:p.Leu108= |
| ENST00000470944.1:n.1308T= |