gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68014778 (MID)
Genomes Max Group AF
0.64718754 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78225347T>C , CM000679.2:g.78225347T>C | GRCh38 |
| NC_000017.10:g.76221428T>C , CM000679.1:g.76221428T>C | GRCh37 |
| NC_000017.9:g.73733023T>C | NCBI36 |
| NG_029069.1:g.16152T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*1793T>C MANE Select | ENSP00000324180.4:n.*1793T>C | |
| ENST00000301633.8:c.*1793T>C | ENSP00000301633.3:n.*1793T>C | |
| ENST00000350051.7:c.*1793T>C | ENSP00000324180.4:n.*1793T>C | |
| ENST00000374948.6:c.*1690T>C | ENSP00000364086.1:n.*1690T>C | |
| NM_001012270.1:c.*1690T>C | NP_001012270.1:n.*1690T>C | |
| NM_001012271.1:c.*1793T>C | NP_001012271.1:n.*1793T>C | |
| NM_001168.2:c.*1793T>C | NP_001159.2:n.*1793T>C | |
| XR_243654.3:n.2424T>C | ||
| XR_934452.1:n.2493T>C | ||
| XR_243654.5:n.2424T>C | ||
| XR_934452.3:n.2493T>C | ||
| NM_001168.3:c.*1793T>C MANE Select | NP_001159.2:n.*1793T>C | |
| NM_001012270.2:c.*1690T>C | NP_001012270.1:n.*1690T>C | |
| NM_001012271.2:c.*1793T>C | NP_001012271.1:n.*1793T>C |