gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35051338 (EAS)
Genomes Max Group AF
0.36590166 (EAS)
Exomes Max Group AF
0.34699823 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106030821T>C , CM000669.2:g.106030821T>C | GRCh38 |
| NC_000007.13:g.105671267T>C , CM000669.1:g.105671267T>C | GRCh37 |
| NC_000007.12:g.105458503T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317716.14:c.2334T>C MANE Select | ENSP00000325954.9:p.Asp778= | |
| ENST00000317716.13:c.2334T>C | ENSP00000325954.9:p.Asp778= | |
| ENST00000466045.1:c.958T>C | ENSP00000419017.1:n.958T>C | |
| ENST00000468143.1:n.185T>C | ||
| ENST00000470188.5:n.2107T>C | ||
| ENST00000478080.5:c.2070T>C | ENSP00000417771.1:p.Asp690= | |
| NM_001301161.1:c.2070T>C | NP_001288090.1:p.Asp690= | |
| NM_152750.4:c.2334T>C | NP_689963.2:p.Asp778= | |
| XM_005250224.3:c.2070T>C | XP_005250281.1:p.Asp690= | |
| XM_005250225.1:c.*1T>C | XP_005250282.1:n.*1T>C | |
| XM_005250226.1:c.1278T>C | XP_005250283.1:p.Asp426= | |
| XM_006715905.1:c.1935T>C | XP_006715968.1:p.Asp645= | |
| XM_006715906.2:c.1788T>C | XP_006715969.1:p.Asp596= | |
| XM_011515955.1:c.*1T>C | XP_011514257.1:n.*1T>C | |
| XM_011515956.1:c.1788T>C | XP_011514258.1:p.Asp596= | |
| XM_011515957.1:c.*14T>C | XP_011514259.1:n.*14T>C | |
| XM_011515958.1:c.*1T>C | XP_011514260.1:n.*1T>C | |
| XM_011515959.1:c.1278T>C | XP_011514261.1:p.Asp426= | |
| XM_005250224.5:c.2070T>C | XP_005250281.1:p.Asp690= | |
| XM_005250225.2:c.*1T>C | XP_005250282.1:n.*1T>C | |
| XM_006715905.2:c.1935T>C | XP_006715968.1:p.Asp645= | |
| XM_011515955.2:c.*1T>C | XP_011514257.1:n.*1T>C | |
| XM_011515956.2:c.1788T>C | XP_011514258.1:p.Asp596= | |
| XM_011515957.2:c.*14T>C | XP_011514259.1:n.*14T>C | |
| XM_011515958.2:c.*1T>C | XP_011514260.1:n.*1T>C | |
| XM_011515959.2:c.1278T>C | XP_011514261.1:p.Asp426= | |
| XM_017011862.1:c.*1T>C | XP_016867351.1:n.*1T>C | |
| XM_017011863.2:c.1788T>C | XP_016867352.1:p.Asp596= | |
| XM_017011864.1:c.1788T>C | XP_016867353.1:p.Asp596= | |
| XM_017011865.2:c.1671T>C | XP_016867354.1:p.Asp557= | |
| XM_017011866.2:c.1485T>C | XP_016867355.1:p.Asp495= | |
| XM_017011867.2:c.1389T>C | XP_016867356.1:p.Asp463= | |
| XM_024446689.1:c.1278T>C | XP_024302457.1:p.Asp426= | |
| XM_024446690.1:c.1086T>C | XP_024302458.1:p.Asp362= | |
| XR_001744598.1:n.2511T>C | ||
| XR_001744600.2:n.2620T>C | ||
| XR_001744601.2:n.2260T>C | ||
| XR_001744602.1:n.2427T>C | ||
| XR_001744603.2:n.2176T>C | ||
| XR_001744605.2:n.2183T>C | ||
| XR_001744606.2:n.2026T>C | ||
| XR_001744607.2:n.1932T>C | ||
| NM_152750.5:c.2334T>C MANE Select | NP_689963.2:p.Asp778= | |
| NM_001301161.2:c.2070T>C | NP_001288090.1:p.Asp690= |