Revel Score:
ENST00000205890
0.819
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000122 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18146035G>A , CM000679.2:g.18146035G>A | GRCh38 |
| NC_000017.10:g.18049349G>A , CM000679.1:g.18049349G>A | GRCh37 |
| NC_000017.9:g.17990074G>A | NCBI36 |
| NG_011634.1:g.42330G>A | |
| NG_011634.2:g.42330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6437G>A MANE Select | ENSP00000495481.1:p.Arg2146Gln | |
| ENST00000205890.9:c.6437G>A | ENSP00000205890.5:p.Arg2146Gln | |
| ENST00000578999.1:n.22G>A | ||
| ENST00000615845.4:c.6437G>A | ENSP00000481642.1:p.Arg2146Gln | |
| NM_016239.3:c.6437G>A | NP_057323.3:p.Arg2146Gln | |
| XM_011523917.1:c.6377G>A | XP_011522219.1:p.Arg2126Gln | |
| XM_011523918.1:c.6342+35G>A | XP_011522220.1:n.6342+35G>A | |
| XM_011523921.1:c.6431G>A | XP_011522223.1:p.Arg2144Gln | |
| XR_934037.1:n.7036G>A | ||
| XR_934038.1:n.7036G>A | ||
| XM_011523918.2:c.6342+35G>A | XP_011522220.1:n.6342+35G>A | |
| XM_017024714.2:c.6377G>A | XP_016880203.1:p.Arg2126Gln | |
| XM_017024715.2:c.6440G>A | XP_016880204.1:p.Arg2147Gln | |
| XM_024450781.1:c.6213+1443G>A | XP_024306549.1:n.6213+1443G>A | |
| NM_016239.4:c.6437G>A MANE Select | NP_057323.3:p.Arg2146Gln |