Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7530570G>A , CM000681.2:g.7530570G>A | GRCh38 |
| NC_000019.9:g.7595456G>A , CM000681.1:g.7595456G>A | GRCh37 |
| NC_000019.8:g.7501456G>A | NCBI36 |
| NG_013374.1:g.1419G>A | |
| NG_015806.1:g.12961G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.1575+69G>A MANE Select | NP_065394.1:n.1575+69G>A |
| ENST00000264079.11:c.1575+69G>A MANE Select | ENSP00000264079.5:n.1575+69G>A |
| NM_020533.2:c.1575+69G>A | NP_065394.1:n.1575+69G>A |
| ENST00000264079.10:c.1575+69G>A | ENSP00000264079.5:n.1575+69G>A |
| ENST00000394321.9:n.1890+69G>A | |
| ENST00000599334.1:c.303+69G>A |