Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2855714G>A , CM000686.2:g.2855714G>A | GRCh38 |
| NC_000024.9:g.2723755G>A , CM000686.1:g.2723755G>A | GRCh37 |
| NC_000024.8:g.2783755G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000250784.13:c.532+943G>A MANE Select | ENSP00000250784.7:n.532+943G>A | |
| ENST00000250784.12:c.532+943G>A | ENSP00000250784.7:n.532+943G>A | |
| ENST00000430575.1:c.559+943G>A | ENSP00000415317.1:n.559+943G>A | |
| ENST00000477725.1:n.676+943G>A | ||
| ENST00000515575.1:n.42+943G>A | ||
| NM_001008.3:c.532+943G>A | NP_000999.1:n.532+943G>A | |
| NM_001008.4:c.532+943G>A MANE Select | NP_000999.1:n.532+943G>A |