Revel Score:
ENST00000359321 (MANE Select)
0.690
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00643741 (AFR)
Genomes Max Group AF
0.00588129 (AFR)
Exomes Max Group AF
0.00668667 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648677A>C , CM000669.2:g.152648677A>C | GRCh38 |
| NC_000007.13:g.152345762A>C , CM000669.1:g.152345762A>C | GRCh37 |
| NC_000007.12:g.151976695A>C | NCBI36 |
| NG_027988.1:g.32489T>G | |
| NG_027988.2:g.32489T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.640T>G | ENSP00000513758.1:p.Phe214Val | |
| ENST00000359321.2:c.808T>G MANE Select | ENSP00000352271.1:p.Phe270Val | |
| ENST00000359321.1:c.808T>G | ENSP00000352271.1:p.Phe270Val | |
| ENST00000495707.1:n.830T>G | ||
| NM_005431.1:c.808T>G | NP_005422.1:p.Phe270Val | |
| NM_005431.2:c.808T>G MANE Select | NP_005422.1:p.Phe270Val |