Revel Score:
ENST00000545009
0.010
ENST00000219478 (MANE Select)
0.010
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1201652 (AFR)
Genomes Max Group AF
0.1178823 (AFR)
Exomes Max Group AF
0.12107138 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4762704A>G , CM000678.2:g.4762704A>G | GRCh38 |
| NC_000016.9:g.4812705A>G , CM000678.1:g.4812705A>G | GRCh37 |
| NC_000016.8:g.4752706A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219478.11:c.467T>C MANE Select | ENSP00000219478.5:p.Phe156Ser | |
| ENST00000219478.10:c.467T>C | ENSP00000219478.5:p.Phe156Ser | |
| ENST00000545009.1:c.467T>C | ENSP00000445714.1:p.Phe156Ser | |
| ENST00000589422.1:c.424T>C | ENSP00000466375.1:p.Ser142Pro | |
| NM_001303450.1:c.467T>C | NP_001290379.1:p.Phe156Ser | |
| NM_021646.2:c.467T>C | NP_067678.1:p.Phe156Ser | |
| XM_005255243.2:c.116T>C | XP_005255300.1:p.Phe39Ser | |
| XM_011522453.1:c.467T>C | XP_011520755.1:p.Phe156Ser | |
| XM_011522454.1:c.-158T>C | XP_011520756.1:n.-158T>C | |
| NM_021646.3:c.467T>C | NP_067678.1:p.Phe156Ser | |
| XM_005255243.4:c.116T>C | XP_005255300.1:p.Phe39Ser | |
| XM_011522453.2:c.467T>C | XP_011520755.1:p.Phe156Ser | |
| XM_011522454.3:c.-158T>C | XP_011520756.1:n.-158T>C | |
| XM_017023121.2:c.-158T>C | XP_016878610.1:n.-158T>C | |
| NM_001303450.2:c.467T>C | NP_001290379.1:p.Phe156Ser | |
| NM_021646.4:c.467T>C MANE Select | NP_067678.1:p.Phe156Ser |