Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51347059C>T , CM000681.2:g.51347059C>T | GRCh38 |
| NC_000019.9:g.51850313C>T , CM000681.1:g.51850313C>T | GRCh37 |
| NC_000019.8:g.56542125C>T | NCBI36 |
| NG_007115.1:g.24360G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.439-1G>A MANE Select | NP_001976.1:n.439-1G>A |
| ENST00000309244.9:c.439-1G>A MANE Select | ENSP00000311930.3:n.439-1G>A |
| NM_001014763.1:c.712-1G>A | NP_001014763.1:n.712-1G>A |
| NM_001985.2:c.439-1G>A | NP_001976.1:n.439-1G>A |
| ENST00000309244.8:c.439-1G>A | ENSP00000311930.3:n.439-1G>A |
| ENST00000354232.8:c.712-1G>A | ENSP00000346173.3:n.712-1G>A |
| ENST00000594361.1:n.1472G>A | |
| ENST00000596253.1:c.280-1G>A | ENSP00000469628.1:n.280-1G>A |
| XM_024451418.1:c.328-1G>A | XP_024307186.1:n.328-1G>A |