COSMIC:
COSM1284396
COSM1284397
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00144659 (NFE)
Genomes Max Group AF
0.00164156 (AMR)
Exomes Max Group AF
0.00143323 (NFE)
Revel Score:
ENST00000360608
0.046
ENST00000389970
0.046
ENST00000413640
0.046
ENST00000359033
0.046
ENST00000542856
0.046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127565T>C , CM000684.2:g.42127565T>C | GRCh38 |
| NC_000022.10:g.42523567T>C , CM000684.1:g.42523567T>C | GRCh37 |
| NC_000022.9:g.40853511T>C | NCBI36 |
| NG_008376.3:g.7427A>G | |
| NG_008376.4:g.8246A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.853A>G | ENSP00000353241.6:n.853A>G | |
| ENST00000645361.2:c.1055A>G MANE Select | ENSP00000496150.1:p.His352Arg | |
| ENST00000359033.4:c.902A>G | ENSP00000351927.4:p.His301Arg | |
| ENST00000360124.9:c.673A>G | ENSP00000353241.5:n.673A>G | |
| ENST00000360608.9:c.1055A>G | ENSP00000353820.5:p.His352Arg | |
| ENST00000389970.7:c.1046A>G | ENSP00000374620.4:p.His349Arg | |
| ENST00000488442.1:n.1779A>G | ||
| NM_000106.5:c.1055A>G | NP_000097.3:p.His352Arg | |
| NM_001025161.2:c.902A>G | NP_001020332.2:p.His301Arg | |
| XM_011529966.1:c.1055A>G | XP_011528268.1:p.His352Arg | |
| XM_011529967.1:c.1055A>G | XP_011528269.1:p.His352Arg | |
| XM_011529968.1:c.1055A>G | XP_011528270.1:p.His352Arg | |
| XM_011529969.1:c.911A>G | XP_011528271.1:p.His304Arg | |
| XM_011529970.1:c.902A>G | XP_011528272.1:p.His301Arg | |
| XM_011529971.1:c.911A>G | XP_011528273.1:p.His304Arg | |
| XM_011529972.1:c.*40A>G | XP_011528274.1:n.*40A>G | |
| NM_000106.6:c.1055A>G MANE Select | NP_000097.3:p.His352Arg | |
| NM_001025161.3:c.902A>G | NP_001020332.2:p.His301Arg |