Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063714C= , CM000663.2:g.55063714C= | GRCh38 |
| NC_000001.10:g.55529387C= , CM000663.1:g.55529387C= | GRCh37 |
| NC_000001.9:g.55301975C= | NCBI36 |
| NG_009061.1:g.29168C= , LRG_275:g.29168C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*549C= | ENSP00000501161.2:n.*549C= | |
| ENST00000710286.1:c.*130C= | ENSP00000518176.1:n.*130C= | |
| ENST00000673903.1:c.*130C= | ENSP00000501257.1:n.*130C= | |
| ENST00000302118.5:c.*130C= MANE Select | ENSP00000303208.5:n.*130C= | |
| ENST00000490692.1:n.2755C= | ||
| NM_174936.3:c.*130C= , LRG_275t1:c.*130C= | NP_777596.2:n.*130C= | |
| NR_110451.1:n.1816C= | ||
| XM_011541193.1:c.*130C= | XP_011539495.1:n.*130C= | |
| NM_174936.4:c.*130C= MANE Select | NP_777596.2:n.*130C= | |
| NR_110451.2:n.1816C= |