Revel Score:
ENST00000496887
0.933
ENST00000155840 (MANE Select)
0.933
ENST00000335475
0.933
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572102A>G , CM000673.2:g.2572102A>G | GRCh38 |
| NC_000011.9:g.2593332A>G , CM000673.1:g.2593332A>G | GRCh37 |
| NC_000011.8:g.2549908A>G | NCBI36 |
| NG_008935.1:g.132112A>G , LRG_287:g.132112A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.512A>G | ENSP00000434560.2:p.His171Arg | |
| ENST00000646564.2:c.478-11333A>G | ENSP00000495806.2:n.478-11333A>G | |
| ENST00000155840.12:c.773A>G MANE Select | ENSP00000155840.2:p.His258Arg | |
| ENST00000335475.6:c.392A>G | ENSP00000334497.5:p.His131Arg | |
| ENST00000646564.1:c.124-11333A>G | ENSP00000495806.1:n.124-11333A>G | |
| ENST00000155840.9:c.773A>G | ENSP00000155840.2:p.His258Arg | |
| ENST00000335475.5:c.392A>G | ENSP00000334497.5:p.His131Arg | |
| ENST00000496887.6:c.512A>G | ENSP00000434560.1:p.His171Arg | |
| NM_000218.2:c.773A>G , LRG_287t1:c.773A>G | NP_000209.2:p.His258Arg | |
| NM_181798.1:c.392A>G , LRG_287t2:c.392A>G | NP_861463.1:p.His131Arg | |
| NM_000218.3:c.773A>G MANE Select | NP_000209.2:p.His258Arg |