gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008154 (AFR)
Genomes Max Group AF
0.00013041 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.54902439G>A , CM000676.2:g.54902439G>A | GRCh38 |
| NC_000014.8:g.55369157G>A , CM000676.1:g.55369157G>A | GRCh37 |
| NC_000014.7:g.54438907G>A | NCBI36 |
| NG_008647.1:g.5386C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491895.7:c.225C>T MANE Select | ENSP00000419045.2:p.Tyr75= | |
| ENST00000254299.8:n.373C>T | ||
| ENST00000395514.5:c.225C>T | ENSP00000378890.1:p.Tyr75= | |
| ENST00000395521.6:n.8C>T | ||
| ENST00000491895.6:c.225C>T | ENSP00000419045.2:p.Tyr75= | |
| ENST00000536224.2:c.225C>T | ENSP00000445246.2:p.Tyr75= | |
| ENST00000543643.6:c.225C>T | ENSP00000444011.2:p.Tyr75= | |
| ENST00000622544.4:c.225C>T | ENSP00000477796.1:p.Tyr75= | |
| NM_000161.2:c.225C>T | NP_000152.1:p.Tyr75= | |
| NM_001024024.1:c.225C>T | NP_001019195.1:p.Tyr75= | |
| NM_001024070.1:c.225C>T | NP_001019241.1:p.Tyr75= | |
| NM_001024071.1:c.225C>T | NP_001019242.1:p.Tyr75= | |
| XM_005267530.1:c.225C>T | XP_005267587.1:p.Tyr75= | |
| XM_011536643.1:c.225C>T | XP_011534945.1:p.Tyr75= | |
| NM_000161.3:c.225C>T MANE Select | NP_000152.1:p.Tyr75= | |
| NM_001024070.2:c.225C>T | NP_001019241.1:p.Tyr75= | |
| NM_001024071.2:c.225C>T | NP_001019242.1:p.Tyr75= | |
| NM_001024024.2:c.225C>T | NP_001019195.1:p.Tyr75= |