Revel Score:
ENST00000421577
0.020
ENST00000443524
0.020
ENST00000419348
0.020
ENST00000451739 (MANE Select)
0.020
ENST00000531058
0.020
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.95016555 (NFE)
Genomes Max Group AF
0.94566199 (NFE)
Exomes Max Group AF
0.95011111 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20383067T>G , CM000673.2:g.20383067T>G | GRCh38 |
| NC_000011.9:g.20404613T>G , CM000673.1:g.20404613T>G | GRCh37 |
| NC_000011.8:g.20361189T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451739.7:c.591T>G MANE Select | ENSP00000394259.2:p.Ser197Arg | |
| ENST00000419348.6:c.693T>G | ENSP00000392985.2:p.Ser231Arg | |
| ENST00000421577.6:c.591T>G | ENSP00000397752.2:p.Ser197Arg | |
| ENST00000443524.6:c.591T>G | ENSP00000387876.2:p.Ser197Arg | |
| ENST00000451739.6:c.591T>G | ENSP00000394259.2:p.Ser197Arg | |
| ENST00000531058.1:c.453T>G | ENSP00000436729.1:p.Ser151Arg | |
| ENST00000533914.1:n.851T>G | ||
| NM_001098520.1:c.693T>G | NP_001091990.1:p.Ser231Arg | |
| NM_001098521.1:c.591T>G | NP_001091991.1:p.Ser197Arg | |
| NM_001098522.1:c.591T>G | NP_001091992.1:p.Ser197Arg | |
| NM_006410.4:c.591T>G | NP_006401.3:p.Ser197Arg | |
| NM_001098520.2:c.693T>G | NP_001091990.1:p.Ser231Arg | |
| NM_001098521.2:c.591T>G | NP_001091991.1:p.Ser197Arg | |
| NM_001098522.2:c.591T>G MANE Select | NP_001091992.1:p.Ser197Arg | |
| NM_006410.5:c.591T>G | NP_006401.3:p.Ser197Arg |