dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22503542 (SAS)
Genomes Max Group AF
0.18908429 (EAS)
Exomes Max Group AF
0.22808943 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29830865C>T , CM000668.2:g.29830865C>T | GRCh38 |
| NC_000006.11:g.29798642C>T , CM000668.1:g.29798642C>T | GRCh37 |
| NC_000006.10:g.29906621C>T | NCBI36 |
| NG_029039.1:g.8887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360323.11:c.*126C>T MANE Select | ENSP00000353472.6:n.*126C>T | |
| ENST00000360323.10:c.*126C>T | ENSP00000353472.6:n.*126C>T | |
| ENST00000376815.3:c.591C>T | ENSP00000366011.3:n.591C>T | |
| ENST00000376818.7:c.867C>T | ENSP00000366014.3:n.867C>T | |
| ENST00000376828.6:c.*126C>T | ENSP00000366024.2:n.*126C>T | |
| ENST00000428701.5:c.*126C>T | ENSP00000412927.1:n.*126C>T | |
| ENST00000478355.5:n.1265C>T | ||
| ENST00000478519.5:c.915C>T | ENSP00000436375.1:n.915C>T | |
| NM_002127.5:c.*126C>T | NP_002118.1:n.*126C>T | |
| NM_001363567.1:c.*126C>T | NP_001350496.1:n.*126C>T | |
| XM_017010817.1:c.*126C>T | XP_016866306.1:n.*126C>T | |
| NM_001363567.2:c.*126C>T | NP_001350496.1:n.*126C>T | |
| NM_001384280.1:c.*126C>T | NP_001371209.1:n.*126C>T | |
| NM_001384290.1:c.*126C>T MANE Select | NP_001371219.1:n.*126C>T | |
| NM_002127.6:c.*126C>T | NP_002118.1:n.*126C>T |