Revel Score:
ENST00000496887
0.972
ENST00000155840 (MANE Select)
0.972
ENST00000335475
0.972
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570671G>A , CM000673.2:g.2570671G>A | GRCh38 |
| NC_000011.9:g.2591901G>A , CM000673.1:g.2591901G>A | GRCh37 |
| NC_000011.8:g.2548477G>A | NCBI36 |
| NG_008935.1:g.130681G>A , LRG_287:g.130681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.260G>A | ENSP00000434560.2:p.Arg87His | |
| ENST00000646564.2:c.478-12764G>A | ENSP00000495806.2:n.478-12764G>A | |
| ENST00000155840.12:c.521G>A MANE Select | ENSP00000155840.2:p.Arg174His | |
| ENST00000335475.6:c.140G>A | ENSP00000334497.5:p.Arg47His | |
| ENST00000646564.1:c.124-12764G>A | ENSP00000495806.1:n.124-12764G>A | |
| ENST00000155840.9:c.521G>A | ENSP00000155840.2:p.Arg174His | |
| ENST00000335475.5:c.140G>A | ENSP00000334497.5:p.Arg47His | |
| ENST00000496887.6:c.260G>A | ENSP00000434560.1:p.Arg87His | |
| NM_000218.2:c.521G>A , LRG_287t1:c.521G>A | NP_000209.2:p.Arg174His | |
| NM_181798.1:c.140G>A , LRG_287t2:c.140G>A | NP_861463.1:p.Arg47His | |
| NM_000218.3:c.521G>A MANE Select | NP_000209.2:p.Arg174His |