gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43123716A>G , CM000672.2:g.43123716A>G | GRCh38 |
| NC_000010.10:g.43619164A>G , CM000672.1:g.43619164A>G | GRCh37 |
| NC_000010.9:g.42939170A>G | NCBI36 |
| NG_007489.1:g.51648A>G , LRG_518:g.51648A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2451A>G | ENSP00000480088.2:p.Gly817= | |
| ENST00000683007.1:n.2421A>G | ||
| ENST00000340058.6:c.2847A>G | ENSP00000344798.4:p.Gly949= | |
| ENST00000355710.8:c.2847A>G MANE Select | ENSP00000347942.3:p.Gly949= | |
| ENST00000671844.1:c.*1441A>G | ENSP00000500541.1:n.*1441A>G | |
| ENST00000672389.1:c.*1441A>G | ENSP00000500252.1:n.*1441A>G | |
| ENST00000340058.5:c.2847A>G | ENSP00000344798.4:p.Gly949= | |
| ENST00000355710.7:c.2847A>G | ENSP00000347942.3:p.Gly949= | |
| ENST00000615310.4:c.*196A>G | ENSP00000480088.1:n.*196A>G | |
| NM_020630.4:c.2847A>G , LRG_518t2:c.2847A>G | NP_065681.1:p.Gly949= | |
| NM_020975.4:c.2847A>G , LRG_518t1:c.2847A>G | NP_066124.1:p.Gly949= | |
| XM_011540027.1:c.2847A>G | XP_011538329.1:p.Gly949= | |
| NM_001355216.1:c.2085A>G | NP_001342145.1:p.Gly695= | |
| NM_020630.5:c.2847A>G | NP_065681.1:p.Gly949= | |
| NM_020975.5:c.2847A>G | NP_066124.1:p.Gly949= | |
| NM_020975.6:c.2847A>G MANE Select | NP_066124.1:p.Gly949= | |
| NM_020630.6:c.2847A>G | NP_065681.1:p.Gly949= |