gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29830452 (NFE)
Genomes Max Group AF
0.29830452 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179708814C>A , CM000667.2:g.179708814C>A | GRCh38 |
| NC_000005.9:g.179135815C>A , CM000667.1:g.179135815C>A | GRCh37 |
| NC_000005.8:g.179068421C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247461.9:c.447-164C>A MANE Select | ENSP00000247461.4:n.447-164C>A | |
| ENST00000502296.6:c.447-164C>A | ENSP00000424745.2:n.447-164C>A | |
| ENST00000502673.6:c.255-164C>A | ENSP00000421107.2:n.255-164C>A | |
| ENST00000506654.6:c.123-164C>A | ENSP00000426555.2:n.123-164C>A | |
| ENST00000509563.2:c.447-164C>A | ENSP00000421434.2:n.447-164C>A | |
| ENST00000513246.6:c.447-164C>A | ENSP00000421813.2:n.447-164C>A | |
| ENST00000679395.1:n.577-164C>A | ||
| ENST00000679471.1:c.*280-164C>A | ENSP00000505723.1:n.*280-164C>A | |
| ENST00000679523.1:n.630-164C>A | ||
| ENST00000679527.1:c.*97-164C>A | ENSP00000506224.1:n.*97-164C>A | |
| ENST00000679642.1:c.447-164C>A | ENSP00000505471.1:n.447-164C>A | |
| ENST00000679719.1:n.630-164C>A | ||
| ENST00000680006.1:c.123-164C>A | ENSP00000505129.1:n.123-164C>A | |
| ENST00000680013.1:c.447-164C>A | ENSP00000506078.1:n.447-164C>A | |
| ENST00000680042.1:c.447-164C>A | ENSP00000505960.1:n.447-164C>A | |
| ENST00000680092.1:c.447-164C>A | ENSP00000505202.1:n.447-164C>A | |
| ENST00000680406.1:c.447-164C>A | ENSP00000505372.1:n.447-164C>A | |
| ENST00000680504.1:c.447-164C>A | ENSP00000505109.1:n.447-164C>A | |
| ENST00000680614.1:c.447-164C>A | ENSP00000504923.1:n.447-164C>A | |
| ENST00000680618.1:c.447-164C>A | ENSP00000506583.1:n.447-164C>A | |
| ENST00000680812.1:c.447-164C>A | ENSP00000505752.1:n.447-164C>A | |
| ENST00000680827.1:c.123-164C>A | ENSP00000506051.1:n.123-164C>A | |
| ENST00000680837.1:c.446+434C>A | ENSP00000504915.1:n.446+434C>A | |
| ENST00000680894.1:c.447-164C>A | ENSP00000505470.1:n.447-164C>A | |
| ENST00000680984.1:c.447-164C>A | ENSP00000506168.1:n.447-164C>A | |
| ENST00000680985.1:c.446+434C>A | ENSP00000505227.1:n.446+434C>A | |
| ENST00000681072.1:c.447-164C>A | ENSP00000505526.1:n.447-164C>A | |
| ENST00000681076.1:c.447-164C>A | ENSP00000505123.1:n.447-164C>A | |
| ENST00000681168.1:c.447-164C>A | ENSP00000506021.1:n.447-164C>A | |
| ENST00000681265.1:c.447-164C>A | ENSP00000506303.1:n.447-164C>A | |
| ENST00000681398.1:c.*128-164C>A | ENSP00000505851.1:n.*128-164C>A | |
| ENST00000681431.1:c.*163-164C>A | ENSP00000505804.1:n.*163-164C>A | |
| ENST00000681476.1:c.447-164C>A | ENSP00000506003.1:n.447-164C>A | |
| ENST00000681504.1:c.447-164C>A | ENSP00000505841.1:n.447-164C>A | |
| ENST00000681576.1:c.447-164C>A | ENSP00000506103.1:n.447-164C>A | |
| ENST00000681674.1:c.447-164C>A | ENSP00000505013.1:n.447-164C>A | |
| ENST00000681712.1:c.447-164C>A | ENSP00000506061.1:n.447-164C>A | |
| ENST00000681733.1:c.447-164C>A | ENSP00000506568.1:n.447-164C>A | |
| ENST00000681762.1:c.447-164C>A | ENSP00000506086.1:n.447-164C>A | |
| ENST00000681894.1:c.447-164C>A | ENSP00000506591.1:n.447-164C>A | |
| ENST00000681903.1:c.447-164C>A | ENSP00000506509.1:n.447-164C>A | |
| ENST00000247461.8:c.447-164C>A | ENSP00000247461.4:n.447-164C>A | |
| ENST00000452673.6:c.447-164C>A | ENSP00000391646.2:n.447-164C>A | |
| ENST00000502498.5:c.447-164C>A | ENSP00000425246.1:n.447-164C>A | |
| ENST00000502673.5:c.255-164C>A | ENSP00000421107.1:n.255-164C>A | |
| ENST00000503126.1:n.227-164C>A | ||
| ENST00000504579.5:c.*128-164C>A | ENSP00000426425.1:n.*128-164C>A | |
| ENST00000504734.5:c.447-164C>A | ENSP00000424063.1:n.447-164C>A | |
| ENST00000506654.5:c.123-164C>A | ENSP00000426555.1:n.123-164C>A | |
| ENST00000508787.1:c.95-164C>A | ||
| ENST00000510810.5:c.353-164C>A | ||
| ENST00000514032.5:c.*97-164C>A | ENSP00000427115.1:n.*97-164C>A | |
| NM_001024649.1:c.447-164C>A | NP_001019820.1:n.447-164C>A | |
| NM_001746.3:c.447-164C>A | NP_001737.1:n.447-164C>A | |
| XM_011534664.1:c.609-164C>A | XP_011532966.1:n.609-164C>A | |
| XM_011534665.1:c.447-164C>A | XP_011532967.1:n.447-164C>A | |
| NM_001363993.1:c.609-164C>A | NP_001350922.1:n.609-164C>A | |
| NM_001363994.1:c.552-164C>A | NP_001350923.1:n.552-164C>A | |
| NM_001363995.1:c.447-164C>A | NP_001350924.1:n.447-164C>A | |
| NM_001363996.1:c.447-164C>A | NP_001350925.1:n.447-164C>A | |
| NM_001363997.1:c.447-164C>A | NP_001350926.1:n.447-164C>A | |
| NM_001363998.1:c.447-164C>A | NP_001350927.1:n.447-164C>A | |
| NM_001363999.1:c.447-164C>A | NP_001350928.1:n.447-164C>A | |
| NM_001364000.1:c.123-164C>A | NP_001350929.1:n.123-164C>A | |
| NM_001364001.1:c.123-164C>A | NP_001350930.1:n.123-164C>A | |
| NR_157048.1:n.624-164C>A | ||
| XM_011534664.2:c.609-164C>A | XP_011532966.1:n.609-164C>A | |
| XM_011534665.3:c.447-164C>A | XP_011532967.1:n.447-164C>A | |
| NM_001746.4:c.447-164C>A MANE Select | NP_001737.1:n.447-164C>A | |
| NM_001024649.2:c.447-164C>A | NP_001019820.1:n.447-164C>A |