Revel Score:
ENST00000307768
0.877
ENST00000543379
0.877
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890762G>T , CM000665.2:g.9890762G>T | GRCh38 |
| NC_000003.11:g.9932446G>T , CM000665.1:g.9932446G>T | GRCh37 |
| NC_000003.10:g.9907446G>T | NCBI36 |
| NG_041779.1:g.5176G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.40G>T | ENSP00000497724.1:p.Gly14Cys | |
| ENST00000647897.1:c.40G>T MANE Select | ENSP00000496942.1:p.Gly14Cys | |
| ENST00000307768.4:c.40G>T | ENSP00000306106.4:p.Gly14Cys | |
| ENST00000489724.1:n.130G>T | ||
| ENST00000616966.2:c.40G>T | ENSP00000481606.1:p.Gly14Cys | |
| NM_032492.3:c.40G>T | NP_115881.3:p.Gly14Cys | |
| NM_001363890.1:c.-229G>T | NP_001350819.1:n.-229G>T | |
| NM_032492.4:c.40G>T MANE Select | NP_115881.3:p.Gly14Cys |