Revel Score:
ENST00000409009
0.014
ENST00000264448
0.014
ENST00000377715
0.014
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017647 (AFR)
Genomes Max Group AF
0.00020347 (AFR)
Exomes Max Group AF
0.00007714 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73452517A>G , CM000664.2:g.73452517A>G | GRCh38 |
| NC_000002.11:g.73679644A>G , CM000664.1:g.73679644A>G | GRCh37 |
| NC_000002.10:g.73533152A>G | NCBI36 |
| NG_011690.1:g.71765A>G , LRG_741:g.71765A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.5609A>G | ENSP00000507671.1:p.Lys1870Arg | |
| ENST00000682801.1:c.5609A>G | ENSP00000507862.1:p.Lys1870Arg | |
| ENST00000682859.1:c.5609A>G | ENSP00000508222.1:p.Lys1870Arg | |
| ENST00000683791.1:c.685+20226A>G | ||
| ENST00000684197.1:n.959A>G | ||
| ENST00000684460.1:c.3061A>G | ||
| ENST00000684548.1:c.5609A>G | ENSP00000507421.1:p.Lys1870Arg | |
| ENST00000684590.1:c.107A>G | ENSP00000507376.1:p.Lys36Arg | |
| ENST00000684656.1:c.3061A>G | ||
| ENST00000613296.6:c.5990A>G MANE Select | ENSP00000482968.1:p.Lys1997Arg | |
| ENST00000423048.5:c.821A>G | ENSP00000399833.1:p.Lys274Arg | |
| ENST00000484298.5:c.5864A>G | ENSP00000478155.1:p.Lys1955Arg | |
| ENST00000613296.4:c.5990A>G | ENSP00000482968.1:p.Lys1997Arg | |
| ENST00000614410.4:c.5990A>G | ENSP00000479094.1:p.Lys1997Arg | |
| NM_015120.4:c.5993A>G , LRG_741t1:c.5993A>G | NP_055935.4:p.Lys1998Arg | |
| NM_001378454.1:c.5990A>G MANE Select | NP_001365383.1:p.Lys1997Arg |