Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118251T>A , CM000685.2:g.78118251T>A | GRCh38 |
| NC_000023.10:g.77373748T>A , CM000685.1:g.77373748T>A | GRCh37 |
| NC_000023.9:g.77260404T>A | NCBI36 |
| NG_008862.1:g.19083T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.641+81T>A MANE Select | ENSP00000362413.4:n.641+81T>A | |
| ENST00000644362.1:c.557+81T>A | ENSP00000496140.1:n.557+81T>A | |
| ENST00000373316.4:c.641+81T>A | ENSP00000362413.4:n.641+81T>A | |
| ENST00000491291.1:n.633+81T>A | ||
| NM_000291.3:c.641+81T>A | NP_000282.1:n.641+81T>A | |
| NM_000291.4:c.641+81T>A MANE Select | NP_000282.1:n.641+81T>A |