gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09408382 (NFE)
Genomes Max Group AF
0.09408658 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203960623C>T , CM000664.2:g.203960623C>T | GRCh38 |
| NC_000002.11:g.204825346C>T , CM000664.1:g.204825346C>T | GRCh37 |
| NC_000002.10:g.204533591C>T | NCBI36 |
| NG_011586.1:g.28844C>T , LRG_65:g.28844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316386.11:c.*1024C>T MANE Select | ENSP00000319476.6:n.*1024C>T | |
| ENST00000316386.10:c.*1024C>T | ENSP00000319476.6:n.*1024C>T | |
| ENST00000435193.1:c.*1032C>T | ENSP00000415951.1:n.*1032C>T | |
| NM_012092.3:c.*1024C>T , LRG_65t1:c.*1024C>T | NP_036224.1:n.*1024C>T | |
| XM_011511028.1:c.*1125C>T | XP_011509330.1:n.*1125C>T | |
| XM_011511029.1:c.*1024C>T | XP_011509331.1:n.*1024C>T | |
| XM_011511030.1:c.*1125C>T | XP_011509332.1:n.*1125C>T | |
| XM_011511031.1:c.*1125C>T | XP_011509333.1:n.*1125C>T | |
| NM_012092.4:c.*1024C>T MANE Select | NP_036224.1:n.*1024C>T |