Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55044009A= , CM000663.2:g.55044009A= | GRCh38 |
| NC_000001.10:g.55509682A= , CM000663.1:g.55509682A= | GRCh37 |
| NC_000001.9:g.55282270A= | NCBI36 |
| NG_009061.1:g.9463A= , LRG_275:g.9463A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.374A= | ENSP00000501161.2:p.Lys125= | |
| ENST00000710286.1:c.731A= | ENSP00000518176.1:p.Lys244= | |
| ENST00000673662.1:n.44A= | ||
| ENST00000673726.1:c.374A= | ENSP00000501004.1:p.Lys125= | |
| ENST00000673903.1:c.-2A= | ENSP00000501257.1:n.-2A= | |
| ENST00000302118.5:c.374A= MANE Select | ENSP00000303208.5:p.Lys125= | |
| NM_174936.3:c.374A= , LRG_275t1:c.374A= | NP_777596.2:p.Lys125= | |
| NR_110451.1:n.182+3606A= | ||
| NM_174936.4:c.374A= MANE Select | NP_777596.2:p.Lys125= | |
| NR_110451.2:n.182+3606A= |