gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1031063 (NFE)
Genomes Max Group AF
0.09972212 (NFE)
Exomes Max Group AF
0.10320484 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16068182C>T , CM000678.2:g.16068182C>T | GRCh38 |
| NC_000016.9:g.16162039C>T , CM000678.1:g.16162039C>T | GRCh37 |
| NC_000016.8:g.16069540C>T | NCBI36 |
| NG_028268.1:g.123606C>T | |
| NG_028268.2:g.123606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399408.7:c.1704C>T | ENSP00000382340.4:p.Tyr568= | |
| ENST00000399410.8:c.1704C>T MANE Select | ENSP00000382342.3:p.Tyr568= | |
| ENST00000572882.3:c.1704C>T | ENSP00000461615.2:p.Tyr568= | |
| ENST00000677164.1:c.1578C>T | ENSP00000502873.1:p.Tyr526= | |
| ENST00000678422.1:c.1704C>T | ENSP00000503954.1:p.Tyr568= | |
| ENST00000399408.6:c.726C>T | ENSP00000382340.3:p.Tyr242= | |
| ENST00000399410.7:c.1704C>T | ENSP00000382342.3:p.Tyr568= | |
| ENST00000572882.2:c.1399C>T | ||
| NM_004996.3:c.1704C>T | NP_004987.2:p.Tyr568= | |
| XM_011522497.1:c.1680C>T | XP_011520799.1:p.Tyr560= | |
| XM_011522498.1:c.1732-3460C>T | XP_011520800.1:n.1732-3460C>T | |
| XM_011522498.2:c.1732-3460C>T | XP_011520800.1:n.1732-3460C>T | |
| XM_017023237.1:c.1758C>T | XP_016878726.1:p.Tyr586= | |
| XM_017023238.1:c.1632C>T | XP_016878727.1:p.Tyr544= | |
| XM_017023239.1:c.1620C>T | XP_016878728.1:p.Tyr540= | |
| XM_017023240.1:c.1758C>T | XP_016878729.1:p.Tyr586= | |
| XM_017023241.1:c.1494C>T | XP_016878730.1:p.Tyr498= | |
| XM_017023242.1:c.1758C>T | XP_016878731.1:p.Tyr586= | |
| XM_017023243.2:c.1758C>T | XP_016878732.1:p.Tyr586= | |
| NM_004996.4:c.1704C>T MANE Select | NP_004987.2:p.Tyr568= |