Revel Score:
ENST00000510424
0.857
ENST00000226382 (MANE Select)
0.970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41747479C>T , CM000666.2:g.41747479C>T | GRCh38 |
| NC_000004.11:g.41749496C>T , CM000666.1:g.41749496C>T | GRCh37 |
| NC_000004.10:g.41444253C>T | NCBI36 |
| NG_008243.1:g.6492G>A , LRG_513:g.6492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.299G>A MANE Select | ENSP00000226382.2:p.Arg100His | |
| ENST00000226382.3:c.299G>A | ENSP00000226382.2:p.Arg100His | |
| ENST00000510424.2:n.120G>A | ||
| NM_003924.3:c.299G>A , LRG_513t1:c.299G>A | NP_003915.2:p.Arg100His | |
| NM_003924.4:c.299G>A MANE Select | NP_003915.2:p.Arg100His |