Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820043G>A , CM000682.2:g.31820043G>A | GRCh38 |
| NC_000020.10:g.30407846G>A , CM000682.1:g.30407846G>A | GRCh37 |
| NC_000020.9:g.29871507G>A | NCBI36 |
| NG_012847.1:g.5669G>A , LRG_392:g.5669G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.53-83G>A MANE Select | ENSP00000365152.4:n.53-83G>A | |
| ENST00000375985.4:c.53-83G>A | ENSP00000365152.4:n.53-83G>A | |
| ENST00000375994.6:c.53-83G>A | ENSP00000365162.2:n.53-83G>A | |
| NM_033118.3:c.53-83G>A , LRG_392t1:c.53-83G>A | NP_149109.1:n.53-83G>A | |
| XR_244155.1:n.218-83G>A | ||
| NM_033118.4:c.53-83G>A MANE Select | NP_149109.1:n.53-83G>A |