Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713190T>A , CM000681.2:g.6713190T>A | GRCh38 |
| NC_000019.9:g.6713201T>A , CM000681.1:g.6713201T>A | GRCh37 |
| NC_000019.8:g.6664201T>A | NCBI36 |
| NG_009557.1:g.12462A>T , LRG_27:g.12462A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.879A>T | ENSP00000512083.1:p.Ser293= | |
| ENST00000695654.1:c.126A>T | ENSP00000512085.1:p.Ser42= | |
| ENST00000695692.1:n.326A>T | ||
| ENST00000245907.11:c.1002A>T MANE Select | ENSP00000245907.4:p.Ser334= | |
| ENST00000245907.10:c.1002A>T | ENSP00000245907.4:p.Ser334= | |
| ENST00000594270.5:n.126A>T | ||
| ENST00000595577.1:n.506A>T | ||
| ENST00000597442.5:n.252A>T | ||
| NM_000064.3:c.1002A>T | NP_000055.2:p.Ser334= | |
| NM_000064.4:c.1002A>T MANE Select | NP_000055.2:p.Ser334= |