ClinVar Variation:
COSMIC:
COSM5026380
COSM5026381
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002315 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002118 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128364665C>T , CM000667.2:g.128364665C>T | GRCh38 |
| NC_000005.9:g.127700358C>T , CM000667.1:g.127700358C>T | GRCh37 |
| NC_000005.8:g.127728257C>T | NCBI36 |
| NG_008750.1:g.178378G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2363G>A MANE Select | ENSP00000262464.4:p.Arg788His | |
| ENST00000262464.8:c.2363G>A | ENSP00000262464.4:p.Arg788His | |
| ENST00000508053.5:c.2363G>A | ENSP00000424571.1:p.Arg788His | |
| ENST00000508989.5:c.2264G>A | ENSP00000425596.1:p.Arg755His | |
| ENST00000619499.4:c.2360G>A | ENSP00000482132.1:p.Arg787His | |
| NM_001999.3:c.2363G>A | NP_001990.2:p.Arg788His | |
| XM_017009228.2:c.2210G>A | XP_016864717.1:p.Arg737His | |
| NM_001999.4:c.2363G>A MANE Select | NP_001990.2:p.Arg788His |