gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02810645 (MID)
Genomes Max Group AF
0.01220235 (AMR)
Exomes Max Group AF
0.02826081 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.14824201C>T , CM000686.2:g.14824201C>T | GRCh38 |
| NC_000024.9:g.16936081C>T , CM000686.1:g.16936081C>T | GRCh37 |
| NC_000024.8:g.15445475C>T | NCBI36 |
| NG_028212.1:g.306594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684976.1:c.699C>T MANE Select | ENSP00000510011.1:p.Thr233= | |
| ENST00000643089.1:c.699C>T | ENSP00000496594.1:p.Thr233= | |
| ENST00000339174.9:c.639C>T | ENSP00000342535.5:p.Thr213= | |
| ENST00000355905.6:c.639C>T | ENSP00000348169.2:p.Thr213= | |
| ENST00000382868.5:c.810C>T | ENSP00000372320.1:p.Thr270= | |
| ENST00000382872.5:c.135C>T | ENSP00000372325.1:p.Thr45= | |
| ENST00000476359.1:n.1184C>T | ||
| NM_001206850.1:c.135C>T | NP_001193779.1:p.Thr45= | |
| NM_014893.4:c.639C>T | NP_055708.3:p.Thr213= | |
| NR_028319.1:n.1113C>T | ||
| NR_046355.1:n.878C>T | ||
| XM_006724874.1:c.699C>T | XP_006724937.1:p.Thr233= | |
| XM_011531424.1:c.699C>T | XP_011529726.1:p.Thr233= | |
| XM_011531425.1:c.699C>T | XP_011529727.1:p.Thr233= | |
| XM_011531426.1:c.699C>T | XP_011529728.1:p.Thr233= | |
| XM_011531427.1:c.699C>T | XP_011529729.1:p.Thr233= | |
| XM_011531428.1:c.699C>T | XP_011529730.1:p.Thr233= | |
| XM_011531429.1:c.699C>T | XP_011529731.1:p.Thr233= | |
| XM_011531430.1:c.699C>T | XP_011529732.1:p.Thr233= | |
| NM_001365584.1:c.699C>T | NP_001352513.1:p.Thr233= | |
| NM_001365586.1:c.699C>T | NP_001352515.1:p.Thr233= | |
| NM_001365588.1:c.699C>T MANE Select | NP_001352517.1:p.Thr233= | |
| NM_001365590.1:c.639C>T | NP_001352519.1:p.Thr213= | |
| NM_001365591.1:c.639C>T | NP_001352520.1:p.Thr213= | |
| NM_001365592.1:c.639C>T | NP_001352521.1:p.Thr213= | |
| NM_001365593.1:c.639C>T | NP_001352522.1:p.Thr213= | |
| XM_006724874.2:c.699C>T | XP_006724937.1:p.Thr233= | |
| XM_011531427.2:c.699C>T | XP_011529729.1:p.Thr233= | |
| XM_011531429.2:c.699C>T | XP_011529731.1:p.Thr233= | |
| XM_011531430.2:c.699C>T | XP_011529732.1:p.Thr233= | |
| XM_017030036.1:c.639C>T | XP_016885525.1:p.Thr213= | |
| XM_017030039.1:c.264C>T | XP_016885528.1:p.Thr88= | |
| XM_017030040.1:c.135C>T | XP_016885529.1:p.Thr45= | |
| XM_024452490.1:c.699C>T | XP_024308258.1:p.Thr233= | |
| NM_001206850.2:c.135C>T | NP_001193779.1:p.Thr45= | |
| NM_014893.5:c.639C>T | NP_055708.3:p.Thr213= | |
| NR_046355.2:n.878C>T | ||
| NM_001394830.1:c.699C>T | NP_001381759.1:p.Thr233= | |
| NM_001394831.1:c.639C>T | NP_001381760.1:p.Thr213= |