COSMIC:
COSM3753533 (not active)
Revel Score:
ENST00000322349 (MANE Select)
0.165
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94123422 (EAS)
Genomes Max Group AF
0.91636328 (EAS)
Exomes Max Group AF
0.94211945 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.92802646T>G , CM000674.2:g.92802646T>G | GRCh38 |
| NC_000012.11:g.93196422T>G , CM000674.1:g.93196422T>G | GRCh37 |
| NC_000012.10:g.91720553T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322349.13:c.2428A>C MANE Select | ENSP00000317955.8:p.Lys810Gln | |
| ENST00000322349.12:c.2428A>C | ENSP00000317955.8:p.Lys810Gln | |
| XM_011538814.1:c.2554A>C | XP_011537116.1:p.Lys852Gln | |
| XM_011538815.1:c.2290A>C | XP_011537117.1:p.Lys764Gln | |
| XM_011538816.1:c.2554A>C | XP_011537118.1:p.Lys852Gln | |
| XM_011538814.2:c.2554A>C | XP_011537116.1:p.Lys852Gln | |
| XM_011538815.2:c.2290A>C | XP_011537117.1:p.Lys764Gln | |
| XM_017020018.1:c.2446A>C | XP_016875507.1:p.Lys816Gln | |
| NM_003566.4:c.2428A>C MANE Select | NP_003557.3:p.Lys810Gln |