gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201709900G>A , CM000664.2:g.201709900G>A | GRCh38 |
| NC_000002.11:g.202574623G>A , CM000664.1:g.202574623G>A | GRCh37 |
| NC_000002.10:g.202282868G>A | NCBI36 |
| NG_008775.1:g.76273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.4261C>T MANE Select | ENSP00000264276.6:p.Arg1421Ter | |
| ENST00000439495.6:c.*441C>T | ENSP00000403832.2:n.*441C>T | |
| ENST00000679409.1:c.*731C>T | ENSP00000506531.1:n.*731C>T | |
| ENST00000679416.1:n.5765C>T | ||
| ENST00000679427.1:n.1697C>T | ||
| ENST00000679435.1:c.4261C>T | ENSP00000505218.1:p.Arg1421Ter | |
| ENST00000679516.1:c.4261C>T | ENSP00000505187.1:p.Arg1421Ter | |
| ENST00000679618.1:c.*1349C>T | ENSP00000506274.1:n.*1349C>T | |
| ENST00000679630.1:n.6110C>T | ||
| ENST00000679635.1:n.2288C>T | ||
| ENST00000679686.1:n.4375C>T | ||
| ENST00000679701.1:n.7253C>T | ||
| ENST00000679916.1:c.*609C>T | ENSP00000506172.1:n.*609C>T | |
| ENST00000680000.1:c.4261C>T | ENSP00000506173.1:p.Arg1421Ter | |
| ENST00000680135.1:c.*2222C>T | ENSP00000506211.1:n.*2222C>T | |
| ENST00000680149.1:c.4258C>T | ENSP00000506497.1:p.Arg1420Ter | |
| ENST00000680163.1:c.4261C>T | ENSP00000505092.1:p.Arg1421Ter | |
| ENST00000680174.1:n.4952C>T | ||
| ENST00000680236.1:c.*1322C>T | ENSP00000506212.1:n.*1322C>T | |
| ENST00000680441.1:n.2819C>T | ||
| ENST00000680497.1:c.4363C>T | ENSP00000505954.1:p.Arg1455Ter | |
| ENST00000680508.1:c.4258C>T | ENSP00000505749.1:p.Arg1420Ter | |
| ENST00000680569.1:c.*1969C>T | ENSP00000505522.1:n.*1969C>T | |
| ENST00000680634.1:n.769C>T | ||
| ENST00000680722.1:n.2061C>T | ||
| ENST00000680726.1:c.4261C>T | ENSP00000505505.1:p.Arg1421Ter | |
| ENST00000680759.1:c.4093C>T | ENSP00000505848.1:p.Arg1365Ter | |
| ENST00000680814.1:c.4261C>T | ENSP00000505710.1:p.Arg1421Ter | |
| ENST00000680828.1:c.*1955C>T | ENSP00000505249.1:n.*1955C>T | |
| ENST00000680861.1:c.4261C>T | ENSP00000505043.1:p.Arg1421Ter | |
| ENST00000680927.1:c.*441C>T | ENSP00000505473.1:n.*441C>T | |
| ENST00000680939.1:n.4603C>T | ||
| ENST00000681250.1:c.*978C>T | ENSP00000505684.1:n.*978C>T | |
| ENST00000681256.1:c.*2276C>T | ENSP00000505446.1:n.*2276C>T | |
| ENST00000681279.1:n.5127C>T | ||
| ENST00000681307.1:n.5374C>T | ||
| ENST00000681461.1:n.5029C>T | ||
| ENST00000681495.1:c.1798C>T | ENSP00000506085.1:p.Arg600Ter | |
| ENST00000681558.1:c.1939C>T | ENSP00000505568.1:p.Arg647Ter | |
| ENST00000681619.1:c.4258C>T | ENSP00000505071.1:p.Arg1420Ter | |
| ENST00000681663.1:n.1167C>T | ||
| ENST00000681692.1:n.2221C>T | ||
| ENST00000681716.1:c.*2115C>T | ENSP00000505078.1:n.*2115C>T | |
| ENST00000681768.1:c.*1925C>T | ENSP00000506311.1:n.*1925C>T | |
| ENST00000681808.1:c.4261C>T | ENSP00000505219.1:p.Arg1421Ter | |
| ENST00000264276.10:c.4261C>T | ENSP00000264276.6:p.Arg1421Ter | |
| ENST00000439495.5:c.2365C>T | ||
| NM_020919.3:c.4261C>T | NP_065970.2:p.Arg1421Ter | |
| XM_005246709.2:c.4258C>T | XP_005246766.1:p.Arg1420Ter | |
| XM_006712654.1:c.4261C>T | XP_006712717.1:p.Arg1421Ter | |
| XM_006712655.2:c.2197C>T | XP_006712718.1:p.Arg733Ter | |
| XM_011511530.1:c.3922C>T | XP_011509832.1:p.Arg1308Ter | |
| XR_922974.1:n.4539C>T | ||
| XM_006712654.3:c.4261C>T | XP_006712717.1:p.Arg1421Ter | |
| XM_006712655.3:c.2197C>T | XP_006712718.1:p.Arg733Ter | |
| XM_017004569.2:c.4258C>T | XP_016860058.1:p.Arg1420Ter | |
| XM_017004572.2:c.1879C>T | XP_016860061.1:p.Arg627Ter | |
| XM_024453024.1:c.3922C>T | XP_024308792.1:p.Arg1308Ter | |
| XM_024453025.1:c.2194C>T | XP_024308793.1:p.Arg732Ter | |
| XR_001738864.2:n.4396C>T | ||
| XR_001738865.2:n.4393C>T | ||
| XR_001738866.2:n.4539C>T | ||
| XR_001738867.2:n.4536C>T | ||
| XR_002959320.1:n.3452C>T | ||
| NM_020919.4:c.4261C>T MANE Select | NP_065970.2:p.Arg1421Ter |