Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26034545G>T , CM000670.2:g.26034545G>T | GRCh38 |
| NC_000008.10:g.25892061G>T , CM000670.1:g.25892061G>T | GRCh37 |
| NC_000008.9:g.25947978G>T | NCBI36 |
| NG_030344.1:g.15580C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520164.6:c.483-1392C>A MANE Select | ENSP00000430241.1:n.483-1392C>A | |
| ENST00000408929.7:c.39-1392C>A | ENSP00000386178.3:n.39-1392C>A | |
| ENST00000517825.1:n.802-1392C>A | ||
| ENST00000520164.5:c.483-1392C>A | ENSP00000430241.1:n.483-1392C>A | |
| NM_022659.3:c.483-1392C>A | NP_073150.2:n.483-1392C>A | |
| NM_022659.4:c.483-1392C>A MANE Select | NP_073150.2:n.483-1392C>A |