gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024294 (AFR)
Genomes Max Group AF
0.0002045 (AFR)
Exomes Max Group AF
0.00020618 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306886G>A , CM000663.2:g.161306886G>A | GRCh38 |
| NC_000001.10:g.161276676G>A , CM000663.1:g.161276676G>A | GRCh37 |
| NC_000001.9:g.159543300G>A | NCBI36 |
| NG_008055.1:g.8087C>T , LRG_256:g.8087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.270C>T | ENSP00000488104.2:p.Asp90= | |
| ENST00000533357.5:c.270C>T MANE Select | ENSP00000432943.1:p.Asp90= | |
| ENST00000672287.2:c.-319C>T | ENSP00000499818.2:n.-319C>T | |
| ENST00000672602.2:c.270C>T | ENSP00000500814.2:p.Asp90= | |
| ENST00000674861.1:n.333C>T | ||
| ENST00000463290.5:c.270C>T | ENSP00000431538.1:p.Asp90= | |
| ENST00000491222.5:c.-319C>T | ENSP00000431441.1:n.-319C>T | |
| ENST00000526189.2:c.14C>T | ||
| ENST00000533357.4:c.270C>T | ENSP00000432943.1:p.Asp90= | |
| NM_000530.6:c.270C>T , LRG_256t1:c.270C>T | NP_000521.2:p.Asp90= | |
| NM_000530.7:c.270C>T | NP_000521.2:p.Asp90= | |
| NM_001315491.1:c.270C>T | NP_001302420.1:p.Asp90= | |
| XM_017001321.2:c.300C>T | XP_016856810.1:p.Asp100= | |
| NM_000530.8:c.270C>T MANE Select | NP_000521.2:p.Asp90= | |
| NM_001315491.2:c.270C>T | NP_001302420.1:p.Asp90= |