Revel Score:
ENST00000336976
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83342371 (NFE)
Genomes Max Group AF
0.82291608 (NFE)
Exomes Max Group AF
0.83375815 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44108078A>G , CM000681.2:g.44108078A>G | GRCh38 |
| NC_000019.9:g.44612231A>G , CM000681.1:g.44612231A>G | GRCh37 |
| NC_000019.8:g.49304071A>G | NCBI36 |
| NG_051221.1:g.18750A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684943.1:c.1918A>G (ZNF224) | ENSP00000509045.1:p.Lys640Glu | |
| ENST00000693561.1:c.1918A>G (ZNF224) MANE Select | ENSP00000508532.1:p.Lys640Glu | |
| ENST00000336976.10:c.1918A>G (ZNF224) | ENSP00000337368.5:p.Lys640Glu | |
| ENST00000591551.1:n.2746A>G (ZNF224) | ||
| NM_013398.2:c.1918A>G (ZNF224) | NP_037530.2:p.Lys640Glu | |
| NR_033341.1:n.622T>C (ZNF225-AS1) | ||
| XM_005259221.2:c.1918A>G (ZNF224) | XP_005259278.1:p.Lys640Glu | |
| NM_001321645.1:c.1918A>G (ZNF224) | NP_001308574.1:p.Lys640Glu | |
| NM_013398.3:c.1918A>G (ZNF224) | NP_037530.2:p.Lys640Glu | |
| XM_017027261.2:c.1918A>G (ZNF224) | XP_016882750.1:p.Lys640Glu | |
| NM_001321645.2:c.1918A>G (ZNF224) | NP_001308574.1:p.Lys640Glu | |
| NM_013398.4:c.1918A>G (ZNF224) | NP_037530.2:p.Lys640Glu | |
| NM_001321645.3:c.1918A>G (ZNF224) MANE Select | NP_001308574.1:p.Lys640Glu | |
| NM_013398.5:c.1918A>G (ZNF224) | NP_037530.2:p.Lys640Glu |