COSMIC:
COSM4001047 (not active)
COSM4001048 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36814382 (EAS)
Genomes Max Group AF
0.38719835 (EAS)
Exomes Max Group AF
0.36415348 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125286G>A , CM000681.2:g.7125286G>A | GRCh38 |
| NC_000019.9:g.7125297G>A , CM000681.1:g.7125297G>A | GRCh37 |
| NC_000019.8:g.7076297G>A | NCBI36 |
| NG_008852.2:g.173715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3255C>T MANE Select | ENSP00000303830.4:p.His1085= | |
| ENST00000302850.9:c.3255C>T | ENSP00000303830.4:p.His1085= | |
| ENST00000341500.9:c.3219C>T | ENSP00000342838.4:p.His1073= | |
| ENST00000593970.1:n.101C>T | ||
| NM_000208.2:c.3255C>T | NP_000199.2:p.His1085= | |
| NM_000208.3:c.3255C>T | NP_000199.2:p.His1085= | |
| NM_001079817.1:c.3219C>T | NP_001073285.1:p.His1073= | |
| NM_001079817.2:c.3219C>T | NP_001073285.1:p.His1073= | |
| XM_011527988.1:c.3330C>T | XP_011526290.1:p.His1110= | |
| XM_011527989.1:c.3294C>T | XP_011526291.1:p.His1098= | |
| XM_011527988.2:c.3252C>T | XP_011526290.2:p.His1084= | |
| XM_011527989.3:c.3216C>T | XP_011526291.2:p.His1072= | |
| NM_000208.4:c.3255C>T MANE Select | NP_000199.2:p.His1085= | |
| NM_001079817.3:c.3219C>T | NP_001073285.1:p.His1073= |