ClinVar Variation:
COSMIC:
COSM5004971
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Genomes Max Group AF
0.00004745 (AFR)
Exomes Max Group AF
0.00006092 (MID)
Revel Score:
ENST00000261917 (MANE Select)
0.297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73343599C>T , CM000677.2:g.73343599C>T | GRCh38 |
| NC_000015.9:g.73635940C>T , CM000677.1:g.73635940C>T | GRCh37 |
| NC_000015.8:g.71422993C>T | NCBI36 |
| NG_009063.1:g.30666G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.995G>A MANE Select | ENSP00000261917.3:p.Arg332Gln | |
| ENST00000261917.3:c.995G>A | ENSP00000261917.3:p.Arg332Gln | |
| NM_005477.2:c.995G>A | NP_005468.1:p.Arg332Gln | |
| NM_005477.3:c.995G>A MANE Select | NP_005468.1:p.Arg332Gln |