Revel Score:
ENST00000155840 (MANE Select)
0.951
ENST00000335475
0.951
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585280G>T , CM000673.2:g.2585280G>T | GRCh38 |
| NC_000011.9:g.2606510G>T , CM000673.1:g.2606510G>T | GRCh37 |
| NC_000011.8:g.2563086G>T | NCBI36 |
| NG_008935.1:g.145290G>T , LRG_287:g.145290G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1735G>T | ENSP00000434560.2:n.771+1735G>T | |
| ENST00000646564.2:c.588+1735G>T | ENSP00000495806.2:n.588+1735G>T | |
| ENST00000155840.12:c.1101G>T MANE Select | ENSP00000155840.2:p.Gln367His | |
| ENST00000335475.6:c.720G>T | ENSP00000334497.5:p.Gln240His | |
| ENST00000646564.1:c.234+1735G>T | ENSP00000495806.1:n.234+1735G>T | |
| ENST00000155840.9:c.1101G>T | ENSP00000155840.2:p.Gln367His | |
| ENST00000335475.5:c.720G>T | ENSP00000334497.5:p.Gln240His | |
| NM_000218.2:c.1101G>T , LRG_287t1:c.1101G>T | NP_000209.2:p.Gln367His | |
| NM_181798.1:c.720G>T , LRG_287t2:c.720G>T | NP_861463.1:p.Gln240His | |
| NM_000218.3:c.1101G>T MANE Select | NP_000209.2:p.Gln367His |