Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118027C>T , CM000685.2:g.78118027C>T | GRCh38 |
| NC_000023.10:g.77373524C>T , CM000685.1:g.77373524C>T | GRCh37 |
| NC_000023.9:g.77260180C>T | NCBI36 |
| NG_008862.1:g.18859C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000291.4:c.522-24C>T MANE Select | NP_000282.1:n.522-24C>T |
| ENST00000373316.5:c.522-24C>T MANE Select | ENSP00000362413.4:n.522-24C>T |
| NM_000291.3:c.522-24C>T | NP_000282.1:n.522-24C>T |
| ENST00000373316.4:c.522-24C>T | ENSP00000362413.4:n.522-24C>T |
| ENST00000491291.1:n.514-24C>T | |
| ENST00000644362.1:c.438-24C>T | ENSP00000496140.1:n.438-24C>T |