COSMIC:
COSM3931552 (not active)
Revel Score:
ENST00000541212 (MANE Select)
0.074
ENST00000261817
0.074
ENST00000544724
0.074
ENST00000542602
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47774955 (EAS)
Genomes Max Group AF
0.48525659 (EAS)
Exomes Max Group AF
0.4750543 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121915890A>G , CM000674.2:g.121915890A>G | GRCh38 |
| NC_000012.11:g.122353796A>G , CM000674.1:g.122353796A>G | GRCh37 |
| NC_000012.10:g.120838179A>G | NCBI36 |
| NG_021364.1:g.2334A>G | |
| NG_021364.2:g.2334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541212.6:c.590A>G MANE Select | ENSP00000440485.1:p.Glu197Gly | |
| ENST00000261817.6:c.587A>G | ENSP00000261817.2:p.Glu196Gly | |
| ENST00000361485.5:n.1673A>G | ||
| ENST00000535293.5:c.*94A>G | ENSP00000443968.1:n.*94A>G | |
| ENST00000537407.5:c.*25A>G | ENSP00000445058.1:n.*25A>G | |
| ENST00000540962.5:c.*120A>G | ENSP00000442210.1:n.*120A>G | |
| ENST00000541212.5:c.590A>G | ENSP00000440485.1:p.Glu197Gly | |
| ENST00000542602.1:c.275A>G | ENSP00000443772.1:p.Glu92Gly | |
| ENST00000543699.5:c.*94A>G | ENSP00000440500.1:n.*94A>G | |
| ENST00000544254.1:n.1095A>G | ||
| ENST00000544724.5:n.2712A>G | ||
| ENST00000544911.1:n.558A>G | ||
| ENST00000546333.1:c.*86-5396A>G | ENSP00000477146.1:n.*86-5396A>G | |
| NM_001261400.2:c.275A>G | NP_001248329.1:p.Glu92Gly | |
| NM_002813.6:c.590A>G | NP_002804.2:p.Glu197Gly | |
| NR_048555.2:n.504A>G | ||
| NM_001261400.3:c.275A>G | NP_001248329.1:p.Glu92Gly | |
| NM_002813.7:c.590A>G MANE Select | NP_002804.2:p.Glu197Gly | |
| NR_048555.3:n.445A>G |