Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713443C>T , CM000681.2:g.6713443C>T | GRCh38 |
| NC_000019.9:g.6713454C>T , CM000681.1:g.6713454C>T | GRCh37 |
| NC_000019.8:g.6664454C>T | NCBI36 |
| NG_009557.1:g.12209G>A , LRG_27:g.12209G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.717G>A | ENSP00000512083.1:p.Gln239= | |
| ENST00000695692.1:n.164G>A | ||
| ENST00000245907.11:c.840G>A MANE Select | ENSP00000245907.4:p.Gln280= | |
| ENST00000245907.10:c.840G>A | ENSP00000245907.4:p.Gln280= | |
| ENST00000595577.1:n.344G>A | ||
| ENST00000597442.5:n.90G>A | ||
| NM_000064.3:c.840G>A | NP_000055.2:p.Gln280= | |
| NM_000064.4:c.840G>A MANE Select | NP_000055.2:p.Gln280= |