Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31663832C= , CM000683.2:g.31663832C= | GRCh38 |
| NC_000021.8:g.33036145C= , CM000683.1:g.33036145C= | GRCh37 |
| NC_000021.7:g.31958016C= | NCBI36 |
| NG_008689.1:g.9211C= , LRG_652:g.9211C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.115C= MANE Select | NP_000445.1:p.Leu39= |
| ENST00000270142.11:c.115C= MANE Select | ENSP00000270142.7:p.Leu39= |
| NM_000454.4:c.115C= , LRG_652t1:c.115C= | NP_000445.1:p.Leu39= |
| ENST00000270142.10:c.115C= | ENSP00000270142.6:p.Leu39= |
| ENST00000389995.4:c.58C= | ENSP00000374645.4:p.Leu20= |
| ENST00000470944.1:n.1043C= | |
| ENST00000476106.5:n.378C= |