gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000859 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00008675 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350609C>T , CM000669.2:g.143350609C>T | GRCh38 |
| NC_000007.13:g.143047702C>T , CM000669.1:g.143047702C>T | GRCh37 |
| NC_000007.12:g.142757824C>T | NCBI36 |
| NG_009815.1:g.39484C>T | |
| NG_009815.2:g.39484C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2550C>T | ENSP00000498052.2:p.Tyr850= | |
| ENST00000343257.7:c.2550C>T MANE Select | ENSP00000339867.2:p.Tyr850= | |
| ENST00000432192.6:c.2374C>T | ||
| ENST00000343257.6:c.2550C>T | ENSP00000339867.2:p.Tyr850= | |
| NM_000083.2:c.2550C>T | NP_000074.2:p.Tyr850= | |
| NR_046453.1:n.2490C>T | ||
| XM_011515781.1:c.2574C>T | XP_011514083.1:p.Tyr858= | |
| XM_011515782.1:c.1296C>T | XP_011514084.1:p.Tyr432= | |
| XM_011515782.2:c.1296C>T | XP_011514084.1:p.Tyr432= | |
| XM_017011739.1:c.2124C>T | XP_016867228.1:p.Tyr708= | |
| XM_017011740.1:c.2100C>T | XP_016867229.1:p.Tyr700= | |
| NM_000083.3:c.2550C>T MANE Select | NP_000074.3:p.Tyr850= | |
| NR_046453.2:n.2505C>T |