Revel Score:
ENST00000525526
0.659
ENST00000534739
0.659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2787307T>G , CM000686.2:g.2787307T>G | GRCh38 |
| NC_000024.9:g.2655348T>G , CM000686.1:g.2655348T>G | GRCh37 |
| NC_000024.8:g.2715348T>G | NCBI36 |
| NG_011751.1:g.5445A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+12568T>G | ||
| ENST00000679825.1:n.419T>G | ||
| ENST00000680285.1:n.320-2442T>G | ||
| ENST00000680845.1:n.166-173T>G | ||
| ENST00000681787.1:n.106+12568T>G | ||
| ENST00000681940.1:n.106+12568T>G | ||
| ENST00000383070.2:c.297A>C MANE Select | ENSP00000372547.1:p.Lys99Asn | |
| ENST00000383070.1:c.297A>C | ENSP00000372547.1:p.Lys99Asn | |
| NM_003140.2:c.297A>C | NP_003131.1:p.Lys99Asn | |
| NM_003140.3:c.297A>C MANE Select | NP_003131.1:p.Lys99Asn |