Revel Score:
ENST00000372391 (MANE Select)
0.072
ENST00000372388
0.072
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99206949 (EAS)
Genomes Max Group AF
0.97609122 (EAS)
Exomes Max Group AF
0.99170846 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.77856847T>C , CM000672.2:g.77856847T>C | GRCh38 |
| NC_000010.10:g.79616605T>C , CM000672.1:g.79616605T>C | GRCh37 |
| NC_000010.9:g.79286611T>C | NCBI36 |
| NG_011484.1:g.74744A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372391.7:c.419A>G MANE Select | ENSP00000361467.2:p.Gln140Arg | |
| ENST00000372391.6:c.419A>G | ENSP00000361467.2:p.Gln140Arg | |
| ENST00000468332.6:c.194A>G | ENSP00000473298.1:p.Gln65Arg | |
| ENST00000475613.6:n.93+12252A>G | ||
| NM_004747.3:c.419A>G | NP_004738.3:p.Gln140Arg | |
| XM_005270276.3:c.419A>G | XP_005270333.1:p.Gln140Arg | |
| XM_006718056.2:c.419A>G | XP_006718119.1:p.Gln140Arg | |
| XM_006718057.2:c.419A>G | XP_006718120.1:p.Gln140Arg | |
| XM_011540341.1:c.242A>G | XP_011538643.1:p.Gln81Arg | |
| XM_011540342.1:c.149A>G | XP_011538644.1:p.Gln50Arg | |
| XM_011540343.1:c.89A>G | XP_011538645.1:p.Gln30Arg | |
| XM_011540344.1:c.83A>G | XP_011538646.1:p.Gln28Arg | |
| XM_011540345.1:c.-47A>G | XP_011538647.1:n.-47A>G | |
| XM_011540346.1:c.419A>G | XP_011538648.1:p.Gln140Arg | |
| XR_945874.1:n.450A>G | ||
| XM_005270276.4:c.419A>G | XP_005270333.1:p.Gln140Arg | |
| XM_006718056.3:c.419A>G | XP_006718119.1:p.Gln140Arg | |
| XM_006718057.3:c.419A>G | XP_006718120.1:p.Gln140Arg | |
| XM_011540341.3:c.242A>G | XP_011538643.1:p.Gln81Arg | |
| XM_011540344.2:c.83A>G | XP_011538646.1:p.Gln28Arg | |
| XM_011540346.2:c.419A>G | XP_011538648.1:p.Gln140Arg | |
| XM_017016913.1:c.137A>G | XP_016872402.1:p.Gln46Arg | |
| XM_017016914.1:c.89A>G | XP_016872403.1:p.Gln30Arg | |
| XR_945874.2:n.461A>G | ||
| NM_004747.4:c.419A>G MANE Select | NP_004738.3:p.Gln140Arg |