Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312934G>A , CM000673.2:g.118312934G>A | GRCh38 |
| NC_000011.9:g.118183649G>A , CM000673.1:g.118183649G>A | GRCh37 |
| NC_000011.8:g.117688859G>A | NCBI36 |
| NG_007383.1:g.13355G>A , LRG_38:g.13355G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.352+68G>A MANE Select | ENSP00000354566.4:n.352+68G>A | |
| ENST00000361763.8:c.352+68G>A | ENSP00000354566.4:n.352+68G>A | |
| ENST00000526146.5:n.966G>A | ||
| ENST00000528435.5:n.905+68G>A | ||
| ENST00000528600.1:c.334+68G>A | ENSP00000433975.1:n.334+68G>A | |
| ENST00000529713.5:n.526G>A | ||
| ENST00000531913.1:n.723+68G>A | ||
| NM_000733.3:c.352+68G>A , LRG_38t1:c.352+68G>A | NP_000724.1:n.352+68G>A | |
| NM_000733.4:c.352+68G>A MANE Select | NP_000724.1:n.352+68G>A |