Revel Score:
ENST00000275034 (MANE Select)
0.604
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79060680G>A , CM000668.2:g.79060680G>A | GRCh38 |
| NC_000006.11:g.79770397G>A , CM000668.1:g.79770397G>A | GRCh37 |
| NC_000006.10:g.79827116G>A | NCBI36 |
| NG_051932.1:g.22619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700012.1:c.328C>T | ENSP00000514753.1:p.Arg110Cys | |
| ENST00000700013.1:c.328C>T | ENSP00000514754.1:p.Arg110Cys | |
| ENST00000700114.1:c.268C>T | ENSP00000514808.1:p.Arg90Cys | |
| ENST00000700115.1:c.328C>T | ENSP00000514809.1:p.Arg110Cys | |
| ENST00000700118.1:c.328C>T | ENSP00000514810.1:p.Arg110Cys | |
| ENST00000700119.1:c.*139C>T | ENSP00000514811.1:n.*139C>T | |
| ENST00000700120.1:n.256C>T | ||
| ENST00000700121.1:n.484C>T | ||
| ENST00000275034.5:c.328C>T MANE Select | ENSP00000275034.3:p.Arg110Cys | |
| ENST00000275034.4:c.328C>T | ENSP00000275034.3:p.Arg110Cys | |
| NM_017934.5:c.328C>T | NP_060404.3:p.Arg110Cys | |
| XM_005248729.3:c.328C>T | XP_005248786.1:p.Arg110Cys | |
| XM_011535917.1:c.328C>T | XP_011534219.1:p.Arg110Cys | |
| XM_011535918.1:c.-189C>T | XP_011534220.1:n.-189C>T | |
| XM_011535919.1:c.328C>T | XP_011534221.1:p.Arg110Cys | |
| XR_942499.1:n.554C>T | ||
| NM_017934.6:c.328C>T | NP_060404.4:p.Arg110Cys | |
| XM_005248729.5:c.328C>T | XP_005248786.1:p.Arg110Cys | |
| XM_011535918.3:c.-189C>T | XP_011534220.1:n.-189C>T | |
| XM_017010989.2:c.-1402C>T | XP_016866478.1:n.-1402C>T | |
| XM_017010990.2:c.-1402C>T | XP_016866479.1:n.-1402C>T | |
| NM_017934.7:c.328C>T MANE Select | NP_060404.4:p.Arg110Cys |