Revel Score:
ENST00000340482
0.961
ENST00000225275 (MANE Select)
0.961
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00006762 (SAS)
Exomes Max Group AF
0.00007123 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273540G>C , CM000679.2:g.58273540G>C | GRCh38 |
| NC_000017.10:g.56350901G>C , CM000679.1:g.56350901G>C | GRCh37 |
| NC_000017.9:g.53705900G>C | NCBI36 |
| NG_009629.1:g.12396C>G , LRG_84:g.12396C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.828C>G | ||
| ENST00000699291.1:c.620C>G | ENSP00000514272.1:n.620C>G | |
| ENST00000699292.1:n.535C>G | ||
| ENST00000225275.4:c.1495C>G MANE Select | ENSP00000225275.3:p.Arg499Gly | |
| ENST00000225275.3:c.1495C>G | ENSP00000225275.3:p.Arg499Gly | |
| NM_000250.1:c.1495C>G , LRG_84t1:c.1495C>G | NP_000241.1:p.Arg499Gly | |
| XM_011524821.1:c.1681C>G | XP_011523123.1:p.Arg561Gly | |
| XM_011524822.1:c.1210C>G | XP_011523124.1:p.Arg404Gly | |
| XM_011524823.1:c.*44C>G | XP_011523125.1:n.*44C>G | |
| NM_000250.2:c.1495C>G MANE Select | NP_000241.1:p.Arg499Gly |