ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000228841 (MANE Select)
0.792
ENST00000548438
0.792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911082C>A , CM000674.2:g.110911082C>A | GRCh38 |
| NC_000012.11:g.111348886C>A , CM000674.1:g.111348886C>A | GRCh37 |
| NC_000012.10:g.109833269C>A | NCBI36 |
| NG_007554.1:g.14496G>T , LRG_393:g.14496G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.496G>T MANE Select | ENSP00000228841.8:p.Asp166Tyr | |
| ENST00000663220.1:c.439G>T | ENSP00000499568.1:p.Asp147Tyr | |
| ENST00000228841.12:c.496G>T | ENSP00000228841.7:p.Asp166Tyr | |
| ENST00000548438.1:c.454G>T | ENSP00000447154.1:p.Asp152Tyr | |
| NM_000432.3:c.496G>T , LRG_393t1:c.496G>T | NP_000423.2:p.Asp166Tyr | |
| NM_000432.4:c.496G>T MANE Select | NP_000423.2:p.Asp166Tyr |