gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88638313 (AFR)
Genomes Max Group AF
0.88062394 (AFR)
Exomes Max Group AF
0.88832666 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75278923C>T , CM000676.2:g.75278923C>T | GRCh38 |
| NC_000014.8:g.75745626C>T , CM000676.1:g.75745626C>T | GRCh37 |
| NC_000014.7:g.74815379C>T | NCBI36 |
| NG_029673.1:g.5146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303562.9:c.-60C>T MANE Select | ENSP00000306245.4:n.-60C>T | |
| ENST00000303562.8:c.-60C>T | ENSP00000306245.4:n.-60C>T | |
| ENST00000535987.5:c.-60C>T | ENSP00000442268.1:n.-60C>T | |
| ENST00000554212.5:c.-60C>T | ENSP00000452443.1:n.-60C>T | |
| ENST00000554617.1:c.-60C>T | ENSP00000450519.1:n.-60C>T | |
| ENST00000556324.2:n.96C>T | ||
| NM_005252.3:c.-60C>T | NP_005243.1:n.-60C>T | |
| NM_005252.4:c.-60C>T MANE Select | NP_005243.1:n.-60C>T |