gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000804 (NFE)
Exomes Max Group AF
0.00008396 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36962249C>T , CM000667.2:g.36962249C>T | GRCh38 |
| NC_000005.9:g.36962351C>T , CM000667.1:g.36962351C>T | GRCh37 |
| NC_000005.8:g.36998108C>T | NCBI36 |
| NG_006987.1:g.90367C>T | |
| NG_006987.2:g.90367C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.585C>T MANE Select | ENSP00000282516.8:p.Tyr195= | |
| ENST00000652901.1:c.585C>T | ENSP00000499536.1:p.Tyr195= | |
| ENST00000282516.12:c.585C>T | ENSP00000282516.8:p.Tyr195= | |
| ENST00000448238.2:c.585C>T | ENSP00000406266.2:p.Tyr195= | |
| ENST00000504430.5:n.205C>T | ||
| ENST00000505998.5:n.564C>T | ||
| ENST00000621733.1:c.-1+85227C>T | ENSP00000480694.1:n.-1+85227C>T | |
| NM_015384.4:c.585C>T | NP_056199.2:p.Tyr195= | |
| NM_133433.3:c.585C>T | NP_597677.2:p.Tyr195= | |
| XM_005248280.2:c.585C>T | XP_005248337.1:p.Tyr195= | |
| XM_006714467.2:c.585C>T | XP_006714530.1:p.Tyr195= | |
| XM_006714468.1:c.585C>T | XP_006714531.1:p.Tyr195= | |
| XM_011514014.1:c.585C>T | XP_011512316.1:p.Tyr195= | |
| XM_011514015.1:c.585C>T | XP_011512317.1:p.Tyr195= | |
| XM_005248280.3:c.585C>T | XP_005248337.1:p.Tyr195= | |
| XM_006714468.2:c.585C>T | XP_006714531.1:p.Tyr195= | |
| XM_017009329.1:c.585C>T | XP_016864818.1:p.Tyr195= | |
| XM_017009331.1:c.585C>T | XP_016864820.1:p.Tyr195= | |
| NM_133433.4:c.585C>T MANE Select | NP_597677.2:p.Tyr195= | |
| NM_015384.5:c.585C>T | NP_056199.2:p.Tyr195= |