Revel Score:
ENST00000538184
0.273
ENST00000515425 (MANE Select)
0.273
ENST00000512049
0.273
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016896 (NFE)
Genomes Max Group AF
0.00013497 (NFE)
Exomes Max Group AF
0.00016668 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149012661C>A , CM000667.2:g.149012661C>A | GRCh38 |
| NC_000005.9:g.148392224C>A , CM000667.1:g.148392224C>A | GRCh37 |
| NC_000005.8:g.148372417C>A | NCBI36 |
| NG_007947.2:g.55514G>T , LRG_269:g.55514G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3023G>T | ||
| ENST00000515425.6:c.3127G>T MANE Select | ENSP00000423660.1:p.Ala1043Ser | |
| ENST00000675793.1:c.*2411G>T | ENSP00000502039.1:n.*2411G>T | |
| ENST00000676056.1:c.*2778G>T | ENSP00000501827.1:n.*2778G>T | |
| ENST00000323829.9:c.*2515G>T | ENSP00000313025.5:n.*2515G>T | |
| ENST00000504517.5:c.2657G>T | ENSP00000421779.1:n.2657G>T | |
| ENST00000504690.5:c.3127G>T | ENSP00000425627.1:p.Ala1043Ser | |
| ENST00000510779.1:c.2177G>T | ||
| ENST00000512049.5:c.3106G>T | ENSP00000421860.1:p.Ala1036Ser | |
| ENST00000515425.5:c.3127G>T | ENSP00000423660.1:p.Ala1043Ser | |
| NM_024577.3:c.3127G>T , LRG_269t1:c.3127G>T | NP_078853.2:p.Ala1043Ser | |
| NM_024577.4:c.3127G>T MANE Select | NP_078853.2:p.Ala1043Ser |