Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118001G= , CM000685.2:g.78118001G= | GRCh38 |
| NC_000023.10:g.77373498G= , CM000685.1:g.77373498G= | GRCh37 |
| NC_000023.9:g.77260154G= | NCBI36 |
| NG_008862.1:g.18833G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.522-50G= MANE Select | ENSP00000362413.4:n.522-50G= | |
| ENST00000644362.1:c.438-50G= | ENSP00000496140.1:n.438-50G= | |
| ENST00000373316.4:c.522-50G= | ENSP00000362413.4:n.522-50G= | |
| ENST00000491291.1:n.514-50G= | ||
| NM_000291.3:c.522-50G= | NP_000282.1:n.522-50G= | |
| NM_000291.4:c.522-50G= MANE Select | NP_000282.1:n.522-50G= |