COSMIC:
COSM4417497 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57161402 (AFR)
Genomes Max Group AF
0.564939 (AFR)
Exomes Max Group AF
0.57567964 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.147539885T>C , CM000666.2:g.147539885T>C | GRCh38 |
| NC_000004.11:g.148461037T>C , CM000666.1:g.148461037T>C | GRCh37 |
| NC_000004.10:g.148680487T>C | NCBI36 |
| NG_013343.1:g.63969T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324300.10:c.969T>C | ENSP00000315011.5:p.His323= | |
| ENST00000648866.1:c.294T>C | ENSP00000496976.1:p.His98= | |
| ENST00000651419.1:c.969T>C MANE Select | ENSP00000498969.1:p.His323= | |
| ENST00000324300.9:c.969T>C | ENSP00000315011.5:p.His323= | |
| ENST00000358556.8:c.642T>C | ENSP00000351359.4:p.His214= | |
| ENST00000503721.1:n.509T>C | ||
| ENST00000506066.1:c.642T>C | ENSP00000425281.1:p.His214= | |
| ENST00000510697.5:c.770T>C | ENSP00000427259.1:n.770T>C | |
| ENST00000511804.5:c.294T>C | ENSP00000425354.1:p.His98= | |
| NM_001166055.1:c.642T>C | NP_001159527.1:p.His214= | |
| NM_001256283.1:c.294T>C | NP_001243212.1:p.His98= | |
| NM_001957.3:c.969T>C | NP_001948.1:p.His323= | |
| NR_045958.1:n.1300T>C | ||
| NR_148963.1:n.1009T>C | ||
| NR_148964.1:n.810T>C | ||
| NM_001957.4:c.969T>C MANE Select | NP_001948.1:p.His323= | |
| NR_045958.2:n.1120T>C | ||
| NR_148963.2:n.829T>C | ||
| NR_148964.2:n.630T>C | ||
| NM_001166055.2:c.642T>C | NP_001159527.1:p.His214= |