gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20402332 (MID)
Genomes Max Group AF
0.08055536 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12860742C>T , CM000686.2:g.12860742C>T | GRCh38 |
| NC_000024.9:g.14972667C>T , CM000686.1:g.14972667C>T | GRCh37 |
| NC_000024.8:g.13482061C>T | NCBI36 |
| NG_008311.1:g.164508C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.*1326C>T | ENSP00000498372.1:n.*1326C>T | |
| ENST00000338981.7:c.*1326C>T MANE Select | ENSP00000342812.3:n.*1326C>T | |
| ENST00000426564.6:n.9021C>T | ||
| ENST00000471409.1:n.2313C>T | ||
| NM_004654.3:c.*1326C>T | NP_004645.2:n.*1326C>T | |
| XM_011531469.1:c.*1326C>T | XP_011529771.1:n.*1326C>T | |
| XM_011531470.1:c.*1326C>T | XP_011529772.1:n.*1326C>T | |
| NM_004654.4:c.*1326C>T MANE Select | NP_004645.2:n.*1326C>T |