gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568137G>A , CM000665.2:g.48568137G>A | GRCh38 |
| NC_000003.11:g.48605570G>A , CM000665.1:g.48605570G>A | GRCh37 |
| NC_000003.10:g.48580574G>A | NCBI36 |
| NG_007065.1:g.32116C>T , LRG_286:g.32116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7828C>T MANE Select | ENSP00000506558.1:p.Arg2610Ter | |
| ENST00000328333.12:c.7828C>T | ENSP00000332371.8:p.Arg2610Ter | |
| ENST00000459756.5:n.651C>T | ||
| ENST00000487017.5:n.4467C>T | ||
| NM_000094.3:c.7828C>T , LRG_286t1:c.7828C>T | NP_000085.1:p.Arg2610Ter | |
| XM_011533336.1:c.7855C>T | XP_011531638.1:p.Arg2619Ter | |
| XM_011533337.1:c.7828C>T | XP_011531639.1:p.Arg2610Ter | |
| XM_011533338.1:c.7795C>T | XP_011531640.1:p.Arg2599Ter | |
| XR_940369.1:n.7891C>T | ||
| XR_940370.1:n.7891C>T | ||
| XR_940371.1:n.7891C>T | ||
| XR_940372.1:n.7865C>T | ||
| XM_017005688.1:c.7768C>T | XP_016861177.1:p.Arg2590Ter | |
| XR_001740003.1:n.7864C>T | ||
| XR_001740004.1:n.7864C>T | ||
| XR_001740005.1:n.7864C>T | ||
| XR_001740006.1:n.7838C>T | ||
| NM_000094.4:c.7828C>T MANE Select | NP_000085.1:p.Arg2610Ter |