Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47349923C>T , CM000673.2:g.47349923C>T | GRCh38 |
| NC_000011.9:g.47371474C>T , CM000673.1:g.47371474C>T | GRCh37 |
| NC_000011.8:g.47328050C>T | NCBI36 |
| NG_007667.1:g.7780G>A , LRG_386:g.7780G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000256.3:c.506-1G>A , LRG_386t1:c.506-1G>A MANE Select | NP_000247.2:n.506-1G>A |
| ENST00000545968.6:c.506-1G>A MANE Select | ENSP00000442795.1:n.506-1G>A |
| ENST00000256993.8:c.506-1G>A | ENSP00000256993.5:n.506-1G>A |
| ENST00000399249.6:c.506-1G>A | ENSP00000382193.2:n.506-1G>A |
| ENST00000544791.1:c.506-1G>A | ENSP00000444259.1:n.506-1G>A |
| ENST00000545968.5:c.506-1G>A | ENSP00000442795.1:n.506-1G>A |
| XM_011520117.1:c.506-1G>A | XP_011518419.1:n.506-1G>A |
| XM_011520118.1:c.506-1G>A | XP_011518420.1:n.506-1G>A |