Revel Score:
ENST00000231749 (MANE Select)
0.489
ENST00000360165
0.489
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030297 (NFE)
Genomes Max Group AF
0.00026698 (NFE)
Exomes Max Group AF
0.00029905 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345533A>C , CM000665.2:g.50345533A>C | GRCh38 |
| NC_000003.11:g.50382964A>C , CM000665.1:g.50382964A>C | GRCh37 |
| NC_000003.10:g.50357968A>C | NCBI36 |
| NG_023270.1:g.404T>G | |
| NG_042828.1:g.5214T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.47T>G MANE Select | ENSP00000231749.3:p.Val16Gly | |
| ENST00000231749.7:c.47T>G | ENSP00000231749.3:p.Val16Gly | |
| ENST00000360165.7:c.47T>G | ENSP00000353289.3:p.Val16Gly | |
| ENST00000431869.1:c.47T>G | ENSP00000391545.1:p.Val16Gly | |
| ENST00000442887.1:c.-38+2T>G | ENSP00000393687.1:n.-38+2T>G | |
| ENST00000443080.5:c.47T>G | ENSP00000415661.1:p.Val16Gly | |
| ENST00000468182.1:n.149T>G | ||
| NM_001308379.1:c.47T>G | NP_001295308.1:p.Val16Gly | |
| NM_015896.2:c.47T>G | NP_056980.2:p.Val16Gly | |
| NM_015896.3:c.47T>G | NP_056980.2:p.Val16Gly | |
| XM_005265216.2:c.-82T>G | XP_005265273.1:n.-82T>G | |
| XM_005265216.3:c.-82T>G | XP_005265273.1:n.-82T>G | |
| NM_015896.4:c.47T>G MANE Select | NP_056980.2:p.Val16Gly | |
| NM_001308379.2:c.47T>G | NP_001295308.1:p.Val16Gly |