ClinVar Variation:
COSMIC:
COSM4962401
COSM4962402
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008157 (AFR)
Genomes Max Group AF
0.00006287 (AFR)
Exomes Max Group AF
0.00005849 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48456251G>A , CM000675.2:g.48456251G>A | GRCh38 |
| NC_000013.10:g.49030387G>A , CM000675.1:g.49030387G>A | GRCh37 |
| NC_000013.9:g.47928388G>A | NCBI36 |
| NG_009009.1:g.157505G>A , LRG_517:g.157505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1862G>A MANE Select | ENSP00000267163.4:p.Arg621His | |
| ENST00000643064.1:c.194+74808G>A | ||
| ENST00000650461.1:c.1862G>A | ENSP00000497193.1:p.Arg621His | |
| ENST00000267163.4:c.1862G>A | ENSP00000267163.4:p.Arg621His | |
| ENST00000480491.1:n.561G>A | ||
| NM_000321.2:c.1862G>A , LRG_517t1:c.1862G>A | NP_000312.2:p.Arg621His | |
| XM_011535171.1:c.1601G>A | XP_011533473.1:p.Arg534His | |
| XM_011535171.2:c.1601G>A | XP_011533473.1:p.Arg534His | |
| NM_000321.3:c.1862G>A MANE Select | NP_000312.2:p.Arg621His |