Revel Score:
ENST00000512123 (MANE Select)
0.049
ENST00000264895
0.193
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00299595 (NFE)
Genomes Max Group AF
0.00183463 (NFE)
Exomes Max Group AF
0.00305164 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78466217G>T , CM000666.2:g.78466217G>T | GRCh38 |
| NC_000004.11:g.79387371G>T , CM000666.1:g.79387371G>T | GRCh37 |
| NC_000004.10:g.79606395G>T | NCBI36 |
| NG_015812.1:g.413648G>T | |
| NG_015812.2:g.413648G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7039G>T | ENSP00000508201.1:p.Val2347Phe | |
| ENST00000512123.4:c.7039G>T MANE Select | ENSP00000422834.2:p.Val2347Phe | |
| ENST00000512123.3:c.7039G>T | ENSP00000422834.2:p.Val2347Phe | |
| NM_025074.6:c.7039G>T | NP_079350.5:p.Val2347Phe | |
| XM_006714314.1:c.7033G>T | XP_006714377.1:p.Val2345Phe | |
| XM_006714316.1:c.7029+1634G>T | XP_006714379.1:n.7029+1634G>T | |
| XM_011532270.1:c.4738G>T | XP_011530572.1:p.Val1580Phe | |
| XM_011532271.1:c.1927G>T | XP_011530573.1:p.Val643Phe | |
| XM_006714316.3:c.7029+1634G>T | XP_006714379.1:n.7029+1634G>T | |
| NM_025074.7:c.7039G>T MANE Select | NP_079350.5:p.Val2347Phe |