gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04609118 (AFR)
Genomes Max Group AF
0.04452001 (AFR)
Exomes Max Group AF
0.0468471 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196994156C>T , CM000663.2:g.196994156C>T | GRCh38 |
| NC_000001.10:g.196963286C>T , CM000663.1:g.196963286C>T | GRCh37 |
| NC_000001.9:g.195229909C>T | NCBI36 |
| NG_016365.1:g.21620C>T , LRG_227:g.21620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.252C>T | ENSP00000514393.1:p.Asp84= | |
| ENST00000699467.1:n.576C>T | ||
| ENST00000699468.1:c.-24-1958C>T | ENSP00000514394.1:n.-24-1958C>T | |
| ENST00000256785.5:c.507C>T MANE Select | ENSP00000256785.4:p.Asp169= | |
| ENST00000256785.4:c.507C>T | ENSP00000256785.4:p.Asp169= | |
| NM_030787.3:c.507C>T , LRG_227t1:c.507C>T | NP_110414.1:p.Asp169= | |
| XM_011510020.1:c.516C>T | XP_011508322.1:p.Asp172= | |
| XM_011510020.2:c.516C>T | XP_011508322.1:p.Asp172= | |
| NM_030787.4:c.507C>T MANE Select | NP_110414.1:p.Asp169= |