Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31830893C>A , CM000682.2:g.31830893C>A | GRCh38 |
| NC_000020.10:g.30418696C>A , CM000682.1:g.30418696C>A | GRCh37 |
| NC_000020.9:g.29882357C>A | NCBI36 |
| NG_012847.1:g.16519C>A , LRG_392:g.16519C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.1295+4C>A MANE Select | ENSP00000365152.4:n.1295+4C>A | |
| ENST00000375985.4:c.1295+4C>A | ENSP00000365152.4:n.1295+4C>A | |
| ENST00000375994.6:c.1295+4C>A | ENSP00000365162.2:n.1295+4C>A | |
| ENST00000468730.1:n.233+4C>A | ||
| NM_033118.3:c.1295+4C>A , LRG_392t1:c.1295+4C>A | NP_149109.1:n.1295+4C>A | |
| XR_244155.1:n.3582-184C>A | ||
| NM_033118.4:c.1295+4C>A MANE Select | NP_149109.1:n.1295+4C>A |