gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60925691 (EAS)
Genomes Max Group AF
0.62830113 (EAS)
Exomes Max Group AF
0.60484379 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63482562C>T , CM000679.2:g.63482562C>T | GRCh38 |
| NC_000017.10:g.61559923C>T , CM000679.1:g.61559923C>T | GRCh37 |
| NC_000017.9:g.58913655C>T | NCBI36 |
| NG_011648.1:g.10490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1215C>T MANE Select | ENSP00000290866.4:p.Pro405= | |
| ENST00000290866.9:c.1215C>T | ENSP00000290866.4:p.Pro405= | |
| ENST00000428043.5:c.1215C>T | ENSP00000397593.2:p.Pro405= | |
| ENST00000582678.5:c.*614C>T | ENSP00000462995.1:n.*614C>T | |
| ENST00000584529.5:n.1249C>T | ||
| NM_000789.3:c.1215C>T | NP_000780.1:p.Pro405= | |
| XM_005257110.1:c.666C>T | XP_005257167.1:p.Pro222= | |
| NM_000789.4:c.1215C>T MANE Select | NP_000780.1:p.Pro405= | |
| NM_001382700.1:c.648C>T | NP_001369629.1:p.Pro216= | |
| NM_001382701.1:c.363C>T | NP_001369630.1:p.Pro121= |