Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104039960G>A , CM000672.2:g.104039960G>A | GRCh38 |
| NC_000010.10:g.105799718G>A , CM000672.1:g.105799718G>A | GRCh37 |
| NC_000010.9:g.105789708G>A | NCBI36 |
| NG_007069.1:g.50921C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.2788+13C>T MANE Select | NP_000485.3:n.2788+13C>T |
| ENST00000648076.2:c.2788+13C>T MANE Select | ENSP00000497653.1:n.2788+13C>T |
| NM_000494.3:c.2788+13C>T | NP_000485.3:n.2788+13C>T |
| ENST00000353479.9:c.2788+13C>T | ENSP00000340937.5:n.2788+13C>T |
| ENST00000369733.7:c.2761+391C>T | ENSP00000358748.3:n.2761+391C>T |
| ENST00000369733.8:c.2761+391C>T | ENSP00000358748.3:n.2761+391C>T |