gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00012022 (EAS)
Exomes Max Group AF
0.00013581 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79487070G>A , CM000668.2:g.79487070G>A | GRCh38 |
| NC_000006.11:g.80196787G>A , CM000668.1:g.80196787G>A | GRCh37 |
| NC_000006.10:g.80253506G>A | NCBI36 |
| NG_016011.1:g.55361C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.2028C>T MANE Select | ENSP00000358861.4:p.Asp676= | |
| ENST00000369846.8:c.2028C>T | ENSP00000358861.4:p.Asp676= | |
| ENST00000392959.5:c.2028C>T | ENSP00000376686.1:p.Asp676= | |
| NM_001122769.2:c.2028C>T | NP_001116241.1:p.Asp676= | |
| NM_181714.3:c.2028C>T | NP_859065.2:p.Asp676= | |
| XM_005248665.3:c.2028C>T | XP_005248722.1:p.Asp676= | |
| XM_011535504.1:c.2028C>T | XP_011533806.1:p.Asp676= | |
| XR_942715.1:n.544-1363G>A | ||
| XR_942716.1:n.506-1363G>A | ||
| XR_942717.1:n.778-1363G>A | ||
| XM_005248665.4:c.2028C>T | XP_005248722.1:p.Asp676= | |
| XR_001744213.1:n.2169-1363G>A | ||
| XR_001744214.1:n.2131-1363G>A | ||
| NM_001122769.3:c.2028C>T MANE Select | NP_001116241.1:p.Asp676= | |
| NM_181714.4:c.2028C>T | NP_859065.2:p.Asp676= |