gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007435 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00007539 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100824682C>T , CM000672.2:g.100824682C>T | GRCh38 |
| NC_000010.10:g.102584439C>T , CM000672.1:g.102584439C>T | GRCh37 |
| NC_000010.9:g.102574429C>T | NCBI36 |
| NG_008680.1:g.83972C>T | |
| NG_008680.2:g.93974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707078.1:c.1047C>T | ENSP00000516729.1:p.Tyr349= | |
| ENST00000707079.1:c.1023C>T | ENSP00000516730.1:p.Tyr341= | |
| ENST00000355243.8:c.954C>T MANE Select | ENSP00000347385.3:p.Tyr318= | |
| ENST00000427256.6:c.954C>T | ENSP00000398652.2:p.Tyr318= | |
| ENST00000679374.1:c.936C>T | ENSP00000506041.1:p.Tyr312= | |
| ENST00000355243.7:c.954C>T | ENSP00000347385.2:p.Tyr318= | |
| ENST00000361791.7:c.951C>T | ENSP00000355069.4:p.Tyr317= | |
| ENST00000370296.6:c.954C>T | ENSP00000359319.3:p.Tyr318= | |
| ENST00000428433.5:c.1023C>T | ENSP00000396259.1:p.Tyr341= | |
| NM_000278.3:c.954C>T | NP_000269.2:p.Tyr318= | |
| NM_001304569.1:c.1047C>T | NP_001291498.1:p.Tyr349= | |
| NM_003987.3:c.1023C>T | NP_003978.2:p.Tyr341= | |
| NM_003988.3:c.954C>T | NP_003979.2:p.Tyr318= | |
| NM_003989.3:c.954C>T | NP_003980.2:p.Tyr318= | |
| NM_003990.3:c.1023C>T | NP_003981.2:p.Tyr341= | |
| NM_000278.4:c.954C>T | NP_000269.3:p.Tyr318= | |
| NM_003987.4:c.1023C>T | NP_003978.3:p.Tyr341= | |
| NM_003988.4:c.954C>T | NP_003979.2:p.Tyr318= | |
| NM_003989.4:c.954C>T | NP_003980.3:p.Tyr318= | |
| NM_003990.4:c.1023C>T | NP_003981.3:p.Tyr341= | |
| NM_000278.5:c.954C>T MANE Select | NP_000269.3:p.Tyr318= | |
| NM_001304569.2:c.1047C>T | NP_001291498.1:p.Tyr349= | |
| NM_003987.5:c.1023C>T | NP_003978.3:p.Tyr341= | |
| NM_003988.5:c.954C>T | NP_003979.2:p.Tyr318= | |
| NM_003989.5:c.954C>T | NP_003980.3:p.Tyr318= | |
| NM_003990.5:c.1023C>T | NP_003981.3:p.Tyr341= |