gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02673969 (NFE)
Genomes Max Group AF
0.02220531 (NFE)
Exomes Max Group AF
0.02696577 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30918203C>T , CM000677.2:g.30918203C>T | GRCh38 |
| NC_000015.9:g.31210406C>T , CM000677.1:g.31210406C>T | GRCh37 |
| NC_000015.8:g.28997698C>T | NCBI36 |
| NG_032946.1:g.19352C>T | |
| NG_032946.2:g.19352C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362065.9:c.1851C>T MANE Select | ENSP00000354497.4:p.Ser617= | |
| ENST00000568145.6:n.727C>T | ||
| ENST00000602886.2:n.2028C>T | ||
| ENST00000654013.1:n.1925C>T | ||
| ENST00000654056.1:c.561C>T | ENSP00000499726.1:p.Ser187= | |
| ENST00000655421.1:n.2122C>T | ||
| ENST00000656109.1:n.796C>T | ||
| ENST00000656307.1:n.2103C>T | ||
| ENST00000656435.1:c.1851C>T | ENSP00000499534.1:p.Ser617= | |
| ENST00000657391.1:c.1851C>T | ENSP00000499703.1:p.Ser617= | |
| ENST00000661974.1:c.1143C>T | ||
| ENST00000662114.1:n.2350C>T | ||
| ENST00000664070.1:c.*1391C>T | ENSP00000499478.1:n.*1391C>T | |
| ENST00000664837.1:c.561C>T | ENSP00000499780.1:p.Ser187= | |
| ENST00000665894.1:n.2192C>T | ||
| ENST00000666852.1:n.2103C>T | ||
| ENST00000667837.1:n.1663C>T | ||
| ENST00000670074.1:c.*593C>T | ENSP00000499252.1:n.*593C>T | |
| ENST00000670849.1:c.1851C>T | ENSP00000499638.1:p.Ser617= | |
| ENST00000362065.8:c.1851C>T | ENSP00000354497.4:p.Ser617= | |
| ENST00000565280.5:c.*692C>T | ENSP00000455573.1:n.*692C>T | |
| NM_014967.4:c.1851C>T | NP_055782.3:p.Ser617= | |
| XM_005254232.3:c.1851C>T | XP_005254289.1:p.Ser617= | |
| XM_005254234.3:c.1851C>T | XP_005254291.1:p.Ser617= | |
| XM_005254235.3:c.1851C>T | XP_005254292.1:p.Ser617= | |
| XM_005254236.2:c.1851C>T | XP_005254293.1:p.Ser617= | |
| XM_011521370.1:c.669C>T | XP_011519672.1:p.Ser223= | |
| XM_011521371.1:c.666C>T | XP_011519673.1:p.Ser222= | |
| XM_005254232.4:c.1851C>T | XP_005254289.1:p.Ser617= | |
| XM_005254234.5:c.1851C>T | XP_005254291.1:p.Ser617= | |
| XM_011521370.2:c.669C>T | XP_011519672.1:p.Ser223= | |
| XM_011521372.2:c.*102C>T | XP_011519674.1:n.*102C>T | |
| XM_017022012.2:c.180C>T | XP_016877501.1:p.Ser60= | |
| XM_017022013.1:c.180C>T | XP_016877502.1:p.Ser60= | |
| XM_024449874.1:c.666C>T | XP_024305642.1:p.Ser222= | |
| XR_001751149.1:n.2150C>T | ||
| XR_001751151.1:n.2146C>T | ||
| NM_014967.5:c.1851C>T MANE Select | NP_055782.3:p.Ser617= |