gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34993624 (AFR)
Genomes Max Group AF
0.34993624 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130876696C>T , CM000674.2:g.130876696C>T | GRCh38 |
| NC_000012.11:g.131361241C>T , CM000674.1:g.131361241C>T | GRCh37 |
| NC_000012.10:g.129927194C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543796.6:c.*770C>T MANE Select | ENSP00000446215.1:n.*770C>T | |
| ENST00000448750.7:c.1475C>T | ENSP00000396127.3:n.1475C>T | |
| ENST00000541630.5:c.*770C>T | ENSP00000441210.1:n.*770C>T | |
| ENST00000543796.5:c.*770C>T | ENSP00000446215.1:n.*770C>T | |
| NM_001300796.1:c.*770C>T | NP_001287725.1:n.*770C>T | |
| NM_001300797.1:c.*770C>T | NP_001287726.1:n.*770C>T | |
| NM_006325.4:c.*770C>T | NP_006316.1:n.*770C>T | |
| XM_017019772.1:c.*851C>T | XP_016875261.1:n.*851C>T | |
| XM_017019773.1:c.*851C>T | XP_016875262.1:n.*851C>T | |
| NM_006325.5:c.*770C>T MANE Select | NP_006316.1:n.*770C>T | |
| NM_001300796.2:c.*770C>T | NP_001287725.1:n.*770C>T | |
| NM_001300797.2:c.*770C>T | NP_001287726.1:n.*770C>T |