Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118298C>T , CM000685.2:g.78118298C>T | GRCh38 |
| NC_000023.10:g.77373795C>T , CM000685.1:g.77373795C>T | GRCh37 |
| NC_000023.9:g.77260451C>T | NCBI36 |
| NG_008862.1:g.19130C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.641+128C>T MANE Select | ENSP00000362413.4:n.641+128C>T | |
| ENST00000644362.1:c.557+128C>T | ENSP00000496140.1:n.557+128C>T | |
| ENST00000373316.4:c.641+128C>T | ENSP00000362413.4:n.641+128C>T | |
| ENST00000491291.1:n.633+128C>T | ||
| NM_000291.3:c.641+128C>T | NP_000282.1:n.641+128C>T | |
| NM_000291.4:c.641+128C>T MANE Select | NP_000282.1:n.641+128C>T |