COSMIC:
COSM4387858 (not active)
Revel Score:
ENST00000329198 (MANE Select)
0.780
ENST00000424406
0.780
ENST00000521848
0.780
ENST00000517440
0.780
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0006609 (MID)
Genomes Max Group AF
0.00019435 (NFE)
Exomes Max Group AF
0.0005736 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173235023C>G , CM000667.2:g.173235023C>G | GRCh38 |
| NC_000005.9:g.172662026C>G , CM000667.1:g.172662026C>G | GRCh37 |
| NC_000005.8:g.172594632C>G | NCBI36 |
| NG_013340.1:g.5290G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.61G>C MANE Select | ENSP00000327758.4:p.Glu21Gln | |
| ENST00000329198.4:c.61G>C | ENSP00000327758.4:p.Glu21Gln | |
| ENST00000424406.2:c.61G>C | ENSP00000395378.2:p.Glu21Gln | |
| ENST00000517440.1:c.61G>C | ENSP00000429905.1:p.Glu21Gln | |
| ENST00000521848.1:c.61G>C | ENSP00000427906.1:p.Glu21Gln | |
| NM_001166175.1:c.61G>C | NP_001159647.1:p.Glu21Gln | |
| NM_001166176.1:c.61G>C | NP_001159648.1:p.Glu21Gln | |
| NM_004387.3:c.61G>C | NP_004378.1:p.Glu21Gln | |
| XM_017009071.2:c.61G>C | XP_016864560.1:p.Glu21Gln | |
| NM_004387.4:c.61G>C MANE Select | NP_004378.1:p.Glu21Gln | |
| NM_001166175.2:c.61G>C | NP_001159647.1:p.Glu21Gln | |
| NM_001166176.2:c.61G>C | NP_001159648.1:p.Glu21Gln |