Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816623C= , CM000681.2:g.4816623C= | GRCh38 |
| NC_000019.9:g.4816635C= , CM000681.1:g.4816635C= | GRCh37 |
| NC_000019.8:g.4767635C= | NCBI36 |
| NG_031998.1:g.20120G= , LRG_358:g.20120G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1755G= MANE Select | ENSP00000248244.4:p.Glu585= | |
| ENST00000248244.5:c.1755G= | ENSP00000248244.4:p.Glu585= | |
| ENST00000621756.1:c.1338G= | ENSP00000479467.1:p.Glu446= | |
| NM_182919.3:c.1755G= , LRG_358t1:c.1755G= | NP_891549.1:p.Glu585= | |
| NM_001385678.1:c.1713G= | NP_001372607.1:p.Glu571= | |
| NM_001385679.1:c.1620G= | NP_001372608.1:p.Glu540= | |
| NM_001385680.1:c.1113G= | NP_001372609.1:p.Glu371= | |
| NM_182919.4:c.1755G= MANE Select | NP_891549.1:p.Glu585= |