gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000342 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00003458 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.3396583C>T , CM000663.2:g.3396583C>T | GRCh38 |
| NC_000001.10:g.3313147C>T , CM000663.1:g.3313147C>T | GRCh37 |
| NC_000001.9:g.3303007C>T | NCBI36 |
| NG_029576.1:g.332406C>T | |
| NG_029576.2:g.332406C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270722.10:c.666C>T MANE Select | ENSP00000270722.5:p.Pro222= | |
| ENST00000270722.9:c.666C>T | ENSP00000270722.5:p.Pro222= | |
| ENST00000378391.6:c.666C>T | ENSP00000367643.2:p.Pro222= | |
| ENST00000509860.1:c.93C>T | ENSP00000425796.1:p.Pro31= | |
| ENST00000511072.5:c.669C>T | ENSP00000426975.1:p.Pro223= | |
| ENST00000512462.5:n.444C>T | ||
| ENST00000514189.5:c.669C>T | ENSP00000421400.1:p.Pro223= | |
| NM_022114.3:c.666C>T | NP_071397.3:p.Pro222= | |
| NM_199454.2:c.666C>T | NP_955533.2:p.Pro222= | |
| XM_005244772.3:c.669C>T | XP_005244829.1:p.Pro223= | |
| XM_005244773.3:c.669C>T | XP_005244830.1:p.Pro223= | |
| XM_005244774.3:c.669C>T | XP_005244831.1:p.Pro223= | |
| XM_006710814.2:c.669C>T | XP_006710877.1:p.Pro223= | |
| XM_011541944.1:c.669C>T | XP_011540246.1:p.Pro223= | |
| XM_011541945.1:c.114C>T | XP_011540247.1:p.Pro38= | |
| XM_005244772.5:c.669C>T | XP_005244829.1:p.Pro223= | |
| XM_005244773.5:c.669C>T | XP_005244830.1:p.Pro223= | |
| XM_005244774.5:c.669C>T | XP_005244831.1:p.Pro223= | |
| XM_006710814.4:c.669C>T | XP_006710877.1:p.Pro223= | |
| XM_011541945.2:c.114C>T | XP_011540247.1:p.Pro38= | |
| XM_017002050.1:c.666C>T | XP_016857539.1:p.Pro222= | |
| NM_022114.4:c.666C>T MANE Select | NP_071397.3:p.Pro222= | |
| NM_199454.3:c.666C>T | NP_955533.2:p.Pro222= |