Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.129076811C>A , CM000674.2:g.129076811C>A | GRCh38 |
| NC_000012.11:g.129561356C>A , CM000674.1:g.129561356C>A | GRCh37 |
| NC_000012.10:g.128127309C>A | NCBI36 |
| NG_052808.1:g.831857G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422113.7:c.2115+1723G>T MANE Select | ENSP00000408581.2:n.2115+1723G>T | |
| ENST00000389441.8:c.729+1723G>T | ENSP00000374092.4:n.729+1723G>T | |
| ENST00000422113.6:c.2115+1723G>T | ENSP00000408581.2:n.2115+1723G>T | |
| ENST00000619366.1:c.2055+1723G>T | ENSP00000478824.1:n.2055+1723G>T | |
| NM_133448.2:c.2115+1723G>T | NP_597705.2:n.2115+1723G>T | |
| XM_011537894.1:c.1968+1723G>T | XP_011536196.1:n.1968+1723G>T | |
| NM_133448.3:c.2115+1723G>T MANE Select | NP_597705.2:n.2115+1723G>T |