dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18444554 (EAS)
Genomes Max Group AF
0.1304491 (EAS)
Exomes Max Group AF
0.19114109 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790052G>A , CM000673.2:g.116790052G>A | GRCh38 |
| NC_000011.9:g.116660768G>A , CM000673.1:g.116660768G>A | GRCh37 |
| NC_000011.8:g.116165978G>A | NCBI36 |
| NG_015894.1:g.7369C>T | |
| NG_015894.2:g.7369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.*76C>T MANE Select | ENSP00000227665.4:n.*76C>T | |
| ENST00000433069.2:c.*76C>T | ENSP00000399701.2:n.*76C>T | |
| ENST00000227665.8:c.*76C>T | ENSP00000227665.4:n.*76C>T | |
| ENST00000542499.5:c.*76C>T | ENSP00000445002.1:n.*76C>T | |
| NM_001166598.1:c.*76C>T | NP_001160070.1:n.*76C>T | |
| NM_052968.4:c.*76C>T | NP_443200.2:n.*76C>T | |
| NM_001166598.2:c.*76C>T | NP_001160070.1:n.*76C>T | |
| NM_001371904.1:c.*76C>T MANE Select | NP_001358833.1:n.*76C>T | |
| NM_052968.5:c.*76C>T | NP_443200.2:n.*76C>T |