Revel Score:
ENST00000308192 (MANE Select)
0.802
ENST00000316325
0.802
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160752240G>A , CM000668.2:g.160752240G>A | GRCh38 |
| NC_000006.11:g.161173272G>A , CM000668.1:g.161173272G>A | GRCh37 |
| NC_000006.10:g.161093262G>A | NCBI36 |
| NG_016200.1:g.55048G>A , LRG_571:g.55048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.1204G>A | ENSP00000516619.1:p.Gly402Arg | |
| ENST00000418964.2:c.2302G>A | ENSP00000389424.2:p.Gly768Arg | |
| ENST00000706906.1:c.*2271G>A | ENSP00000516618.1:n.*2271G>A | |
| ENST00000308192.14:c.2251G>A MANE Select | ENSP00000308938.9:p.Gly751Arg | |
| ENST00000308192.13:c.2251G>A | ENSP00000308938.9:p.Gly751Arg | |
| ENST00000461414.2:n.225G>A | ||
| ENST00000467466.1:n.552G>A | ||
| NM_000301.3:c.2251G>A , LRG_571t1:c.2251G>A | NP_000292.1:p.Gly751Arg | |
| NM_000301.4:c.2251G>A | NP_000292.1:p.Gly751Arg | |
| NM_000301.5:c.2251G>A MANE Select | NP_000292.1:p.Gly751Arg |