Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710640G>A , CM000681.2:g.6710640G>A | GRCh38 |
| NC_000019.9:g.6710651G>A , CM000681.1:g.6710651G>A | GRCh37 |
| NC_000019.8:g.6661651G>A | NCBI36 |
| NG_009557.1:g.15012C>T , LRG_27:g.15012C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1685C>T MANE Select | NP_000055.2:p.Ser562Leu |
| ENST00000245907.11:c.1685C>T MANE Select | ENSP00000245907.4:p.Ser562Leu |
| NM_000064.3:c.1685C>T | NP_000055.2:p.Ser562Leu |
| ENST00000245907.10:c.1685C>T | ENSP00000245907.4:p.Ser562Leu |
| ENST00000600763.1:n.318C>T | |
| ENST00000695652.1:c.1562C>T | ENSP00000512083.1:p.Ser521Leu |
| ENST00000695654.1:c.809C>T | ENSP00000512085.1:p.Ser270Leu |
| ENST00000695655.1:c.590C>T | ENSP00000512086.1:p.Ser197Leu |
| ENST00000695692.1:n.1049C>T |