Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6712507C>T , CM000681.2:g.6712507C>T | GRCh38 |
| NC_000019.9:g.6712518C>T , CM000681.1:g.6712518C>T | GRCh37 |
| NC_000019.8:g.6663518C>T | NCBI36 |
| NG_009557.1:g.13145G>A , LRG_27:g.13145G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1119+1G>A MANE Select | NP_000055.2:n.1119+1G>A |
| ENST00000245907.11:c.1119+1G>A MANE Select | ENSP00000245907.4:n.1119+1G>A |
| NM_000064.3:c.1119+1G>A | NP_000055.2:n.1119+1G>A |
| ENST00000245907.10:c.1119+1G>A | ENSP00000245907.4:n.1119+1G>A |
| ENST00000594270.5:n.222+1G>A | |
| ENST00000595577.1:n.623+1G>A | |
| ENST00000597442.5:n.369+1G>A | |
| ENST00000695652.1:c.996+1G>A | ENSP00000512083.1:n.996+1G>A |
| ENST00000695654.1:c.243+1G>A | ENSP00000512085.1:n.243+1G>A |
| ENST00000695692.1:n.483+1G>A |