Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123474C= , CM000685.2:g.78123474C= | GRCh38 |
| NC_000023.10:g.77378971C= , CM000685.1:g.77378971C= | GRCh37 |
| NC_000023.9:g.77265627C= | NCBI36 |
| NG_008862.1:g.24306C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.936+100C= MANE Select | ENSP00000362413.4:n.936+100C= | |
| ENST00000644362.1:c.852+100C= | ENSP00000496140.1:n.852+100C= | |
| ENST00000373316.4:c.936+100C= | ENSP00000362413.4:n.936+100C= | |
| NM_000291.3:c.936+100C= | NP_000282.1:n.936+100C= | |
| NM_000291.4:c.936+100C= MANE Select | NP_000282.1:n.936+100C= |