ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000228841 (MANE Select)
0.737
ENST00000548438
0.737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911082C>G , CM000674.2:g.110911082C>G | GRCh38 |
| NC_000012.11:g.111348886C>G , CM000674.1:g.111348886C>G | GRCh37 |
| NC_000012.10:g.109833269C>G | NCBI36 |
| NG_007554.1:g.14496G>C , LRG_393:g.14496G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.496G>C MANE Select | ENSP00000228841.8:p.Asp166His | |
| ENST00000663220.1:c.439G>C | ENSP00000499568.1:p.Asp147His | |
| ENST00000228841.12:c.496G>C | ENSP00000228841.7:p.Asp166His | |
| ENST00000548438.1:c.454G>C | ENSP00000447154.1:p.Asp152His | |
| NM_000432.3:c.496G>C , LRG_393t1:c.496G>C | NP_000423.2:p.Asp166His | |
| NM_000432.4:c.496G>C MANE Select | NP_000423.2:p.Asp166His |