Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3857803C= , CM000682.2:g.3857803C= | GRCh38 |
| NC_000020.10:g.3838450C= , CM000682.1:g.3838450C= | GRCh37 |
| NC_000020.9:g.3786450C= | NCBI36 |
| NG_030028.1:g.16005C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000428216.4:c.286C= MANE Select | ENSP00000401980.2:p.Gln96= | |
| ENST00000416600.6:c.-132+3062C= | ENSP00000413749.2:n.-132+3062C= | |
| ENST00000428216.3:c.286C= | ENSP00000401980.2:p.Gln96= | |
| NM_001206491.1:c.-132+3062C= | NP_001193420.1:n.-132+3062C= | |
| NM_020746.4:c.286C= | NP_065797.2:p.Gln96= | |
| NR_037921.1:n.458C= | ||
| NM_020746.5:c.286C= MANE Select | NP_065797.2:p.Gln96= | |
| NR_037921.2:n.423C= | ||
| NM_001206491.2:c.-132+3062C= | NP_001193420.1:n.-132+3062C= | |
| NM_001385663.1:c.-262C= | NP_001372592.1:n.-262C= |