Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709888A>T , CM000681.2:g.6709888A>T | GRCh38 |
| NC_000019.9:g.6709899A>T , CM000681.1:g.6709899A>T | GRCh37 |
| NC_000019.8:g.6660899A>T | NCBI36 |
| NG_009557.1:g.15764T>A , LRG_27:g.15764T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-46T>A | ENSP00000512083.1:n.1564-46T>A | |
| ENST00000695654.1:c.811-46T>A | ENSP00000512085.1:n.811-46T>A | |
| ENST00000695655.1:c.592-10T>A | ENSP00000512086.1:n.592-10T>A | |
| ENST00000695692.1:n.1051-46T>A | ||
| ENST00000245907.11:c.1687-46T>A MANE Select | ENSP00000245907.4:n.1687-46T>A | |
| ENST00000245907.10:c.1687-46T>A | ENSP00000245907.4:n.1687-46T>A | |
| ENST00000600763.1:n.320-46T>A | ||
| NM_000064.3:c.1687-46T>A | NP_000055.2:n.1687-46T>A | |
| NM_000064.4:c.1687-46T>A MANE Select | NP_000055.2:n.1687-46T>A |