Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857694C= , CM000682.2:g.3857694C= | GRCh38 |
| NC_000020.10:g.3838341C= , CM000682.1:g.3838341C= | GRCh37 |
| NC_000020.9:g.3786341C= | NCBI36 |
| NG_030028.1:g.15896C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.177C= MANE Select | ENSP00000401980.2:p.Phe59= | |
| ENST00000416600.6:c.-132+2953C= | ENSP00000413749.2:n.-132+2953C= | |
| ENST00000428216.3:c.177C= | ENSP00000401980.2:p.Phe59= | |
| NM_001206491.1:c.-132+2953C= | NP_001193420.1:n.-132+2953C= | |
| NM_020746.4:c.177C= | NP_065797.2:p.Phe59= | |
| NR_037921.1:n.349C= | ||
| NM_020746.5:c.177C= MANE Select | NP_065797.2:p.Phe59= | |
| NR_037921.2:n.314C= | ||
| NM_001206491.2:c.-132+2953C= | NP_001193420.1:n.-132+2953C= | |
| NM_001385663.1:c.-371C= | NP_001372592.1:n.-371C= |