gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16720279 (AMR)
Genomes Max Group AF
0.14438462 (SAS)
Exomes Max Group AF
0.18665494 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128948946T>C , CM000669.2:g.128948946T>C | GRCh38 |
| NC_000007.13:g.128589000T>C , CM000669.1:g.128589000T>C | GRCh37 |
| NC_000007.12:g.128376236T>C | NCBI36 |
| NG_012306.1:g.16007T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700148.1:n.1909T>C | ||
| ENST00000700151.1:n.4175T>C | ||
| ENST00000700152.1:n.3715T>C | ||
| ENST00000700153.1:n.3089T>C | ||
| ENST00000700154.1:n.1253T>C | ||
| ENST00000357234.10:c.*128T>C MANE Select | ENSP00000349770.5:n.*128T>C | |
| ENST00000489702.6:c.*128T>C | ENSP00000418037.2:n.*128T>C | |
| ENST00000249375.8:c.*128T>C | ENSP00000249375.4:n.*128T>C | |
| ENST00000402030.6:c.*128T>C | ENSP00000385352.2:n.*128T>C | |
| ENST00000465603.5:c.*1153T>C | ENSP00000418534.1:n.*1153T>C | |
| ENST00000473745.5:c.*128T>C | ENSP00000419149.1:n.*128T>C | |
| ENST00000619830.1:c.*1123T>C | ENSP00000483292.1:n.*1123T>C | |
| NM_001098627.3:c.*128T>C | NP_001092097.2:n.*128T>C | |
| NM_001098629.2:c.*128T>C | NP_001092099.1:n.*128T>C | |
| NM_001098630.2:c.*128T>C | NP_001092100.1:n.*128T>C | |
| NM_001242452.2:c.*128T>C | NP_001229381.1:n.*128T>C | |
| NM_032643.4:c.*128T>C | NP_116032.1:n.*128T>C | |
| XM_005250317.2:c.*128T>C | XP_005250374.1:n.*128T>C | |
| XM_006715974.2:c.*128T>C | XP_006716037.1:n.*128T>C | |
| XM_011516158.1:c.*128T>C | XP_011514460.1:n.*128T>C | |
| XM_011516159.1:c.*128T>C | XP_011514461.1:n.*128T>C | |
| XM_011516160.1:c.*128T>C | XP_011514462.1:n.*128T>C | |
| XM_011516161.1:c.*128T>C | XP_011514463.1:n.*128T>C | |
| XM_011516162.1:c.*128T>C | XP_011514464.1:n.*128T>C | |
| XM_011516163.1:c.*128T>C | XP_011514465.1:n.*128T>C | |
| XM_011516164.1:c.*128T>C | XP_011514466.1:n.*128T>C | |
| NM_001347928.1:c.*128T>C | NP_001334857.1:n.*128T>C | |
| NM_001364314.1:c.*128T>C | NP_001351243.1:n.*128T>C | |
| XM_011516158.3:c.*128T>C | XP_011514460.1:n.*128T>C | |
| XM_011516159.3:c.*128T>C | XP_011514461.1:n.*128T>C | |
| NM_001098629.3:c.*128T>C MANE Select | NP_001092099.1:n.*128T>C | |
| NM_001098630.3:c.*128T>C | NP_001092100.1:n.*128T>C | |
| NM_001242452.3:c.*128T>C | NP_001229381.1:n.*128T>C | |
| NM_001347928.2:c.*128T>C | NP_001334857.1:n.*128T>C | |
| NM_001364314.2:c.*128T>C | NP_001351243.1:n.*128T>C | |
| NM_001098627.4:c.*128T>C | NP_001092097.2:n.*128T>C | |
| NM_032643.5:c.*128T>C | NP_116032.1:n.*128T>C |