Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335041C>A , CM000673.2:g.47335041C>A | GRCh38 |
| NC_000011.9:g.47356592C>A , CM000673.1:g.47356592C>A | GRCh37 |
| NC_000011.8:g.47313168C>A | NCBI36 |
| NG_007667.1:g.22662G>T , LRG_386:g.22662G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.2905+1G>T , LRG_386t1:c.2905+1G>T MANE Select | NP_000247.2:n.2905+1G>T |
| ENST00000545968.6:c.2905+1G>T MANE Select | ENSP00000442795.1:n.2905+1G>T |
| ENST00000256993.8:c.2905+1G>T | ENSP00000256993.5:n.2905+1G>T |
| ENST00000399249.6:c.2905+1G>T | ENSP00000382193.2:n.2905+1G>T |
| ENST00000545968.5:c.2905+1G>T | ENSP00000442795.1:n.2905+1G>T |
| XM_011520117.1:c.2887+1G>T | XP_011518419.1:n.2887+1G>T |
| XM_011520118.1:c.2824+1G>T | XP_011518420.1:n.2824+1G>T |