Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162199448C= , CM000663.2:g.162199448C= | GRCh38 |
| NC_000001.10:g.162169238C= , CM000663.1:g.162169238C= | GRCh37 |
| NC_000001.9:g.160435862C= | NCBI36 |
| NG_015979.1:g.134658C= | |
| NG_015979.2:g.134658C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.177+44972C= MANE Select | ENSP00000355133.5:n.177+44972C= | |
| ENST00000361897.9:c.177+44972C= | ENSP00000355133.5:n.177+44972C= | |
| ENST00000430120.3:c.177+44972C= | ENSP00000396713.3:n.177+44972C= | |
| ENST00000530878.5:c.177+44972C= | ENSP00000431586.1:n.177+44972C= | |
| NM_001164757.1:c.177+44972C= | NP_001158229.1:n.177+44972C= | |
| NM_014697.2:c.177+44972C= | NP_055512.1:n.177+44972C= | |
| NM_014697.3:c.177+44972C= MANE Select | NP_055512.1:n.177+44972C= | |
| NM_001164757.2:c.177+44972C= | NP_001158229.1:n.177+44972C= |