Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816943G= , CM000681.2:g.4816943G= | GRCh38 |
| NC_000019.9:g.4816955G= , CM000681.1:g.4816955G= | GRCh37 |
| NC_000019.8:g.4767955G= | NCBI36 |
| NG_031998.1:g.19800C= , LRG_358:g.19800C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1435C= MANE Select | ENSP00000248244.4:p.Arg479= | |
| ENST00000248244.5:c.1435C= | ENSP00000248244.4:p.Arg479= | |
| ENST00000621756.1:c.1018C= | ENSP00000479467.1:p.Arg340= | |
| NM_182919.3:c.1435C= , LRG_358t1:c.1435C= | NP_891549.1:p.Arg479= | |
| NM_001385678.1:c.1393C= | NP_001372607.1:p.Arg465= | |
| NM_001385679.1:c.1300C= | NP_001372608.1:p.Arg434= | |
| NM_001385680.1:c.793C= | NP_001372609.1:p.Arg265= | |
| NM_182919.4:c.1435C= MANE Select | NP_891549.1:p.Arg479= |