Revel Score:
ENST00000480687
0.623
ENST00000308375
0.623
ENST00000308388 (MANE Select)
0.623
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00113819 (NFE)
Genomes Max Group AF
0.00071567 (NFE)
Exomes Max Group AF
0.00115414 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49723648C>G , CM000665.2:g.49723648C>G | GRCh38 |
| NC_000003.11:g.49761081C>G , CM000665.1:g.49761081C>G | GRCh37 |
| NC_000003.10:g.49736085C>G | NCBI36 |
| NG_033731.1:g.5327G>C | |
| NG_033731.2:g.5327G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.79G>C MANE Select | ENSP00000311130.6:p.Asp27His | |
| ENST00000481959.2:n.296G>C | ||
| ENST00000495627.2:c.79G>C | ENSP00000503768.1:p.Asp27His | |
| ENST00000677393.1:c.79G>C | ENSP00000503880.1:p.Asp27His | |
| ENST00000678010.1:c.79G>C | ENSP00000503176.1:p.Asp27His | |
| ENST00000678208.1:n.296G>C | ||
| ENST00000678853.1:c.79G>C | ENSP00000504692.1:p.Asp27His | |
| ENST00000308375.10:c.79G>C | ENSP00000309092.6:p.Asp27His | |
| ENST00000308388.6:c.79G>C | ENSP00000311130.6:p.Asp27His | |
| ENST00000480687.5:c.79G>C | ENSP00000418565.1:p.Asp27His | |
| ENST00000481959.1:n.296G>C | ||
| ENST00000495627.1:n.269G>C | ||
| NM_013334.3:c.79G>C | NP_037466.2:p.Asp27His | |
| NM_021971.2:c.79G>C | NP_068806.1:p.Asp27His | |
| NM_021971.4:c.79G>C MANE Select | NP_068806.2:p.Asp27His | |
| NM_013334.4:c.79G>C | NP_037466.3:p.Asp27His |