Revel Score:
ENST00000375499 (MANE Select)
0.920
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028724G>C , CM000663.2:g.17028724G>C | GRCh38 |
| NC_000001.10:g.17355219G>C , CM000663.1:g.17355219G>C | GRCh37 |
| NC_000001.9:g.17227806G>C | NCBI36 |
| NG_012340.1:g.30447C>G , LRG_316:g.30447C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.128C>G | ENSP00000481376.2:p.Ser43Cys | |
| ENST00000491274.6:c.257C>G | ENSP00000480482.2:p.Ser86Cys | |
| ENST00000375499.8:c.299C>G MANE Select | ENSP00000364649.3:p.Ser100Cys | |
| ENST00000375499.7:c.299C>G | ENSP00000364649.3:p.Ser100Cys | |
| ENST00000463045.2:c.128C>G | ENSP00000481376.1:p.Ser43Cys | |
| ENST00000475506.1:n.216C>G | ||
| ENST00000485515.5:n.287C>G | ||
| ENST00000491274.5:c.257C>G | ENSP00000480482.1:p.Ser86Cys | |
| NM_003000.2:c.299C>G , LRG_316t1:c.299C>G | NP_002991.2:p.Ser100Cys | |
| NM_003000.3:c.299C>G MANE Select | NP_002991.2:p.Ser100Cys |