Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052749C= , CM000663.2:g.55052749C= | GRCh38 |
| NC_000001.10:g.55518422C= , CM000663.1:g.55518422C= | GRCh37 |
| NC_000001.9:g.55291010C= | NCBI36 |
| NG_009061.1:g.18203C= , LRG_275:g.18203C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.757C= MANE Select | NP_777596.2:p.Leu253= |
| ENST00000302118.5:c.757C= MANE Select | ENSP00000303208.5:p.Leu253= |
| NM_174936.3:c.757C= , LRG_275t1:c.757C= | NP_777596.2:p.Leu253= |
| NR_110451.1:n.416C= | |
| NR_110451.2:n.416C= | |
| ENST00000490692.1:n.1578C= | |
| ENST00000673903.1:c.382C= | ENSP00000501257.1:p.Leu128= |
| ENST00000673913.2:c.757C= | ENSP00000501161.2:p.Leu253= |
| ENST00000710286.1:c.1114C= | ENSP00000518176.1:p.Leu372= |