COSMIC:
COSM4416773 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70640581 (NFE)
Genomes Max Group AF
0.68957591 (NFE)
Exomes Max Group AF
0.70715242 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64592802T>C , CM000673.2:g.64592802T>C | GRCh38 |
| NC_000011.9:g.64360274T>C , CM000673.1:g.64360274T>C | GRCh37 |
| NC_000011.8:g.64116850T>C | NCBI36 |
| NG_008110.1:g.6993T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.426T>C MANE Select | ENSP00000366797.1:p.His142= | |
| ENST00000336464.7:c.426T>C | ENSP00000336836.7:p.His142= | |
| ENST00000377567.6:c.426T>C | ENSP00000366790.2:p.His142= | |
| ENST00000377572.5:c.426T>C | ENSP00000366795.1:p.His142= | |
| ENST00000377574.5:c.426T>C | ENSP00000366797.1:p.His142= | |
| ENST00000473690.5:c.-83T>C | ENSP00000438437.1:n.-83T>C | |
| NM_001276326.1:c.426T>C | NP_001263255.1:p.His142= | |
| NM_001276327.1:c.426T>C | NP_001263256.1:p.His142= | |
| NM_144585.3:c.426T>C | NP_653186.2:p.His142= | |
| NM_153378.2:c.-83T>C | NP_700357.1:n.-83T>C | |
| XM_006718430.2:c.426T>C | XP_006718493.1:p.His142= | |
| XM_006718431.2:c.321T>C | XP_006718494.1:p.His107= | |
| XM_006718430.4:c.426T>C | XP_006718493.1:p.His142= | |
| XM_006718431.4:c.321T>C | XP_006718494.1:p.His107= | |
| NM_144585.4:c.426T>C MANE Select | NP_653186.2:p.His142= | |
| NM_001276326.2:c.426T>C | NP_001263255.1:p.His142= | |
| NM_153378.3:c.-83T>C | NP_700357.1:n.-83T>C | |
| NM_001276327.2:c.426T>C | NP_001263256.1:p.His142= |