Revel Score:
ENST00000205890
0.922
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002665 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.0000254 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145969G>A , CM000679.2:g.18145969G>A | GRCh38 |
| NC_000017.10:g.18049283G>A , CM000679.1:g.18049283G>A | GRCh37 |
| NC_000017.9:g.17990008G>A | NCBI36 |
| NG_011634.1:g.42264G>A | |
| NG_011634.2:g.42264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6371G>A MANE Select | ENSP00000495481.1:p.Arg2124Gln | |
| ENST00000205890.9:c.6371G>A | ENSP00000205890.5:p.Arg2124Gln | |
| ENST00000615845.4:c.6371G>A | ENSP00000481642.1:p.Arg2124Gln | |
| NM_016239.3:c.6371G>A | NP_057323.3:p.Arg2124Gln | |
| XM_011523917.1:c.6311G>A | XP_011522219.1:p.Arg2104Gln | |
| XM_011523918.1:c.6311G>A | XP_011522220.1:p.Arg2104Gln | |
| XM_011523921.1:c.6365G>A | XP_011522223.1:p.Arg2122Gln | |
| XR_934037.1:n.6970G>A | ||
| XR_934038.1:n.6970G>A | ||
| XM_011523918.2:c.6311G>A | XP_011522220.1:p.Arg2104Gln | |
| XM_017024714.2:c.6311G>A | XP_016880203.1:p.Arg2104Gln | |
| XM_017024715.2:c.6374G>A | XP_016880204.1:p.Arg2125Gln | |
| XM_024450781.1:c.6213+1377G>A | XP_024306549.1:n.6213+1377G>A | |
| NM_016239.4:c.6371G>A MANE Select | NP_057323.3:p.Arg2124Gln |