Revel Score:
ENST00000447527
0.970
ENST00000538123
0.994
ENST00000361216 (MANE Select)
0.994
ENST00000392233
0.994
ENST00000435866
0.994
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160128761C>T , CM000663.2:g.160128761C>T | GRCh38 |
| NC_000001.10:g.160098551C>T , CM000663.1:g.160098551C>T | GRCh37 |
| NC_000001.9:g.158365175C>T | NCBI36 |
| NG_008014.1:g.18004C>T , LRG_6:g.18004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.1127C>T MANE Select | ENSP00000354490.3:p.Thr376Met | |
| ENST00000361216.7:c.1127C>T | ENSP00000354490.3:p.Thr376Met | |
| ENST00000392233.7:c.1127C>T | ENSP00000376066.3:p.Thr376Met | |
| ENST00000447527.1:c.259C>T | ||
| ENST00000472488.5:n.1230C>T | ||
| NM_000702.3:c.1127C>T | NP_000693.1:p.Thr376Met | |
| NM_000702.4:c.1127C>T MANE Select | NP_000693.1:p.Thr376Met |