Revel Score:
ENST00000295897 (MANE Select)
0.253
ENST00000415165
0.253
ENST00000503124
0.253
ENST00000509063
0.253
ENST00000401494
0.253
ENST00000430202
0.253
ENST00000511370
0.198
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001883 (NFE)
Exomes Max Group AF
0.00001914 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73412072A>G , CM000666.2:g.73412072A>G | GRCh38 |
| NC_000004.11:g.74277789A>G , CM000666.1:g.74277789A>G | GRCh37 |
| NC_000004.10:g.74496653A>G | NCBI36 |
| NG_009291.1:g.12818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.790A>G MANE Select | ENSP00000295897.4:p.Lys264Glu | |
| ENST00000295897.8:c.790A>G | ENSP00000295897.4:p.Lys264Glu | |
| ENST00000401494.7:c.445A>G | ENSP00000384695.3:p.Lys149Glu | |
| ENST00000415165.6:c.214A>G | ENSP00000401820.2:p.Lys72Glu | |
| ENST00000476441.6:c.*69A>G | ENSP00000423727.1:n.*69A>G | |
| ENST00000503124.5:c.340A>G | ENSP00000421027.1:p.Lys114Glu | |
| ENST00000505649.5:n.476A>G | ||
| ENST00000507673.1:n.107A>G | ||
| ENST00000509063.5:c.790A>G | ENSP00000422784.1:p.Lys264Glu | |
| ENST00000511370.1:c.323A>G | ||
| ENST00000621085.4:c.490+2710A>G | ENSP00000483421.1:n.490+2710A>G | |
| ENST00000621628.4:c.486+2996A>G | ENSP00000480485.1:n.486+2996A>G | |
| NM_000477.5:c.790A>G | NP_000468.1:p.Lys264Glu | |
| NM_000477.6:c.790A>G | NP_000468.1:p.Lys264Glu | |
| NM_000477.7:c.790A>G MANE Select | NP_000468.1:p.Lys264Glu |