ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006236 (AFR)
Genomes Max Group AF
0.00009569 (AFR)
Exomes Max Group AF
0.00005162 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16869823G>A , CM000672.2:g.16869823G>A | GRCh38 |
| NC_000010.10:g.16911822G>A , CM000672.1:g.16911822G>A | GRCh37 |
| NC_000010.9:g.16951828G>A | NCBI36 |
| NG_008967.1:g.264995C>T , LRG_540:g.264995C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.9267C>T MANE Select | ENSP00000367064.4:p.Thr3089= | |
| ENST00000377833.8:c.9267C>T | ENSP00000367064.4:p.Thr3089= | |
| NM_001081.3:c.9267C>T , LRG_540t1:c.9267C>T | NP_001072.2:p.Thr3089= | |
| XM_011519709.1:c.5253C>T | XP_011518011.1:p.Thr1751= | |
| XM_011519710.1:c.5229C>T | XP_011518012.1:p.Thr1743= | |
| XM_011519711.1:c.5109C>T | XP_011518013.1:p.Thr1703= | |
| XM_011519709.2:c.5253C>T | XP_011518011.1:p.Thr1751= | |
| XM_011519710.2:c.5229C>T | XP_011518012.1:p.Thr1743= | |
| XM_011519711.3:c.5109C>T | XP_011518013.1:p.Thr1703= | |
| NM_001081.4:c.9267C>T MANE Select | NP_001072.2:p.Thr3089= |