gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000473 (NFE)
Exomes Max Group AF
0.00000409 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71125122C>T , CM000685.2:g.71125122C>T | GRCh38 |
| NC_000023.10:g.70344972C>T , CM000685.1:g.70344972C>T | GRCh37 |
| NC_000023.9:g.70261697C>T | NCBI36 |
| NG_012808.1:g.11567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.2082C>T | ENSP00000333125.8:p.Tyr694= | |
| ENST00000374102.6:c.2202C>T | ENSP00000363215.2:p.Tyr734= | |
| ENST00000686548.1:c.*2098C>T | ENSP00000509582.1:n.*2098C>T | |
| ENST00000687382.1:c.2202C>T | ENSP00000510724.1:p.Tyr734= | |
| ENST00000688663.1:c.2202C>T | ENSP00000509348.1:p.Tyr734= | |
| ENST00000689008.1:c.*2536C>T | ENSP00000509134.1:n.*2536C>T | |
| ENST00000689768.1:n.812C>T | ||
| ENST00000690145.1:c.2202C>T | ENSP00000508818.1:p.Tyr734= | |
| ENST00000690242.1:c.2202C>T | ENSP00000510090.1:p.Tyr734= | |
| ENST00000690828.1:n.2358C>T | ||
| ENST00000691113.1:c.147C>T | ENSP00000509755.1:p.Tyr49= | |
| ENST00000691385.1:n.1480C>T | ||
| ENST00000691426.1:n.433C>T | ||
| ENST00000691468.1:c.2202C>T | ENSP00000509011.1:p.Tyr734= | |
| ENST00000692304.1:c.2202C>T | ENSP00000508427.1:p.Tyr734= | |
| ENST00000693324.1:c.2121C>T | ENSP00000508643.1:p.Tyr707= | |
| ENST00000693391.1:c.147C>T | ENSP00000509563.1:p.Tyr49= | |
| ENST00000374080.8:c.2202C>T MANE Select | ENSP00000363193.3:p.Tyr734= | |
| ENST00000333646.10:c.1743C>T | ENSP00000333125.7:p.Tyr581= | |
| ENST00000374080.7:c.2202C>T | ENSP00000363193.3:p.Tyr734= | |
| ENST00000374102.5:c.2202C>T | ENSP00000363215.1:p.Tyr734= | |
| NM_005120.2:c.2202C>T | NP_005111.2:p.Tyr734= | |
| XM_005262317.1:c.2202C>T | XP_005262374.1:p.Tyr734= | |
| XM_005262319.1:c.2202C>T | XP_005262376.1:p.Tyr734= | |
| NM_005120.3:c.2202C>T MANE Select | NP_005111.2:p.Tyr734= |