Revel Score:
ENST00000374498
0.623
ENST00000374497
0.623
ENST00000456977
0.623
ENST00000429356
0.623
ENST00000418277
0.623
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01881623 (AFR)
Genomes Max Group AF
0.01826659 (AFR)
Exomes Max Group AF
0.01873673 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796722T>C , CM000663.2:g.23796722T>C | GRCh38 |
| NC_000001.10:g.24123212T>C , CM000663.1:g.24123212T>C | GRCh37 |
| NC_000001.9:g.23995799T>C | NCBI36 |
| NG_007068.1:g.9083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.770A>G MANE Select | ENSP00000483375.1:p.Lys257Arg | |
| ENST00000374497.7:c.770A>G | ENSP00000363621.3:p.Lys257Arg | |
| ENST00000418277.5:c.578A>G | ENSP00000414719.1:p.Lys193Arg | |
| ENST00000429356.5:c.578A>G | ENSP00000398585.1:p.Lys193Arg | |
| ENST00000456977.5:c.128A>G | ENSP00000397045.1:p.Lys43Arg | |
| ENST00000459934.5:n.888A>G | ||
| ENST00000469556.1:n.164A>G | ||
| ENST00000481736.5:n.1174A>G | ||
| ENST00000617979.4:c.770A>G | ENSP00000483375.1:p.Lys257Arg | |
| NM_000403.3:c.770A>G | NP_000394.2:p.Lys257Arg | |
| NM_001008216.1:c.770A>G | NP_001008217.1:p.Lys257Arg | |
| NM_001127621.1:c.770A>G | NP_001121093.1:p.Lys257Arg | |
| NM_001008216.2:c.770A>G MANE Select | NP_001008217.1:p.Lys257Arg | |
| NM_000403.4:c.770A>G | NP_000394.2:p.Lys257Arg | |
| NM_001127621.2:c.770A>G | NP_001121093.1:p.Lys257Arg |