gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22571651 (MID)
Genomes Max Group AF
0.22080031 (NFE)
Exomes Max Group AF
0.22569282 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27778906G>A , CM000679.2:g.27778906G>A | GRCh38 |
| NC_000017.10:g.26105932G>A , CM000679.1:g.26105932G>A | GRCh37 |
| NC_000017.9:g.23130059G>A | NCBI36 |
| NG_011470.1:g.26624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697337.1:c.*601C>T | ENSP00000513259.1:n.*601C>T | |
| ENST00000697338.1:c.1003C>T | ENSP00000513260.1:n.1003C>T | |
| ENST00000697339.1:c.316-4455C>T | ENSP00000513261.1:n.316-4455C>T | |
| ENST00000697340.1:c.1152C>T | ENSP00000513262.1:p.Asp384= | |
| ENST00000697341.1:n.1125C>T | ||
| ENST00000313735.11:c.1155C>T MANE Select | ENSP00000327251.6:p.Asp385= | |
| ENST00000646938.1:c.1152C>T | ENSP00000494870.1:p.Asp384= | |
| ENST00000313735.10:c.1155C>T | ENSP00000327251.6:p.Asp385= | |
| ENST00000621962.1:c.1038C>T | ENSP00000482291.1:p.Asp346= | |
| NM_000625.4:c.1155C>T MANE Select | NP_000616.3:p.Asp385= | |
| XM_011524859.1:c.1155C>T | XP_011523161.1:p.Asp385= | |
| XM_011524860.1:c.1152C>T | XP_011523162.1:p.Asp384= | |
| XM_011524861.1:c.1155C>T | XP_011523163.1:p.Asp385= | |
| XM_011524862.1:c.489C>T | XP_011523164.1:p.Asp163= |