COSMIC:
COSM147338 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58421534 (MID)
Genomes Max Group AF
0.5318874 (AMR)
Exomes Max Group AF
0.58253294 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121496917T>C , CM000673.2:g.121496917T>C | GRCh38 |
| NC_000011.9:g.121367626T>C , CM000673.1:g.121367626T>C | GRCh37 |
| NC_000011.8:g.120872836T>C | NCBI36 |
| NG_023313.1:g.49666T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.807T>C MANE Select | ENSP00000260197.6:p.His269= | |
| ENST00000260197.11:c.807T>C | ENSP00000260197.6:p.His269= | |
| ENST00000532451.1:n.759T>C | ||
| NM_003105.5:c.807T>C | NP_003096.1:p.His269= | |
| XM_011542963.1:c.807T>C | XP_011541265.1:p.His269= | |
| XM_011542964.1:c.807T>C | XP_011541266.1:p.His269= | |
| XM_011542963.3:c.807T>C | XP_011541265.1:p.His269= | |
| XM_017018169.2:c.495T>C | XP_016873658.1:p.His165= | |
| XM_017018170.2:c.282T>C | XP_016873659.1:p.His94= | |
| XM_017018171.1:c.807T>C | XP_016873660.1:p.His269= | |
| NM_003105.6:c.807T>C MANE Select | NP_003096.2:p.His269= |