Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714228C= , CM000681.2:g.6714228C= | GRCh38 |
| NC_000019.9:g.6714239C= , CM000681.1:g.6714239C= | GRCh37 |
| NC_000019.8:g.6665239C= | NCBI36 |
| NG_009557.1:g.11424G= , LRG_27:g.11424G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.497G= | ENSP00000512083.1:p.Arg166= | |
| ENST00000245907.11:c.620G= MANE Select | ENSP00000245907.4:p.Arg207= | |
| ENST00000245907.10:c.620G= | ENSP00000245907.4:p.Arg207= | |
| ENST00000595577.1:n.124G= | ||
| NM_000064.3:c.620G= | NP_000055.2:p.Arg207= | |
| NM_000064.4:c.620G= MANE Select | NP_000055.2:p.Arg207= |