COSMIC:
COSM3759866 (not active)
COSM5019643 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59667992 (EAS)
Genomes Max Group AF
0.54790548 (EAS)
Exomes Max Group AF
0.60118826 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169774313C>T , CM000665.2:g.169774313C>T | GRCh38 |
| NC_000003.11:g.169492101C>T , CM000665.1:g.169492101C>T | GRCh37 |
| NC_000003.10:g.170974795C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349841.10:c.18C>T MANE Select | ENSP00000326240.4:p.His6= | |
| ENST00000349841.9:c.18C>T | ENSP00000326240.4:p.His6= | |
| ENST00000356716.8:c.18C>T | ENSP00000349150.3:p.His6= | |
| ENST00000544106.5:c.18C>T | ENSP00000440637.1:p.His6= | |
| ENST00000602751.5:c.18C>T | ENSP00000473654.1:p.His6= | |
| NM_001185118.1:c.18C>T | NP_001172047.1:p.His6= | |
| NM_001185119.1:c.18C>T | NP_001172048.1:p.His6= | |
| NM_018657.4:c.18C>T | NP_061127.1:p.His6= | |
| NR_033702.1:n.447C>T | ||
| NR_033703.1:n.447C>T | ||
| XM_005247621.3:c.18C>T | XP_005247678.1:p.His6= | |
| XM_005247622.3:c.18C>T | XP_005247679.1:p.His6= | |
| XM_005247624.3:c.-195C>T | XP_005247681.1:n.-195C>T | |
| XM_011512987.1:c.18C>T | XP_011511289.1:p.His6= | |
| XM_011512988.1:c.18C>T | XP_011511290.1:p.His6= | |
| XM_005247621.5:c.18C>T | XP_005247678.1:p.His6= | |
| XM_005247622.4:c.18C>T | XP_005247679.1:p.His6= | |
| XM_005247624.4:c.-195C>T | XP_005247681.1:n.-195C>T | |
| XM_017006864.2:c.18C>T | XP_016862353.1:p.His6= | |
| XM_017006865.2:c.-195C>T | XP_016862354.1:n.-195C>T | |
| XM_017006866.2:c.-195C>T | XP_016862355.1:n.-195C>T | |
| XM_017006867.2:c.-686C>T | XP_016862356.1:n.-686C>T | |
| XM_017006868.2:c.-686C>T | XP_016862357.1:n.-686C>T | |
| XR_002959552.1:n.719C>T | ||
| NM_001185118.2:c.18C>T | NP_001172047.1:p.His6= | |
| NM_018657.5:c.18C>T MANE Select | NP_061127.1:p.His6= | |
| NR_033702.2:n.116C>T | ||
| NR_033703.2:n.116C>T |