gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00491312 (AFR)
Genomes Max Group AF
0.0042659 (AFR)
Exomes Max Group AF
0.00532636 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136371144G>A , CM000671.2:g.136371144G>A | GRCh38 |
| NC_000009.11:g.139265596G>A , CM000671.1:g.139265596G>A | GRCh37 |
| NC_000009.10:g.138385417G>A | NCBI36 |
| NG_021197.1:g.7538C>T , LRG_178:g.7538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641290.2:n.329C>T | ||
| ENST00000695905.1:n.452C>T | ||
| ENST00000695906.1:n.452C>T | ||
| ENST00000695908.1:n.443C>T | ||
| ENST00000696169.1:c.324C>T | ENSP00000512460.1:p.Asp108= | |
| ENST00000371732.10:c.324C>T MANE Select | ENSP00000360797.5:p.Asp108= | |
| ENST00000641290.1:c.12C>T | ENSP00000493113.1:p.Asp4= | |
| ENST00000371732.9:c.324C>T | ENSP00000360797.5:p.Asp108= | |
| ENST00000371734.7:c.324C>T | ENSP00000360799.3:p.Asp108= | |
| ENST00000481053.5:n.453C>T | ||
| ENST00000489932.2:c.324C>T | ENSP00000451368.1:p.Asp108= | |
| ENST00000556340.1:n.455C>T | ||
| NM_052813.4:c.324C>T , LRG_178t1:c.324C>T | NP_434700.2:p.Asp108= | |
| NM_052814.3:c.324C>T | NP_434701.1:p.Asp108= | |
| NM_052813.5:c.324C>T MANE Select | NP_434700.2:p.Asp108= | |
| NM_052814.4:c.324C>T | NP_434701.1:p.Asp108= |