gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Exomes Max Group AF
0.00000992 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169537856G>A , CM000666.2:g.169537856G>A | GRCh38 |
| NC_000004.11:g.170459007G>A , CM000666.1:g.170459007G>A | GRCh37 |
| NC_000004.10:g.170695582G>A | NCBI36 |
| NG_027982.1:g.79772C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.1534C>T | ENSP00000508844.1:p.Arg512Ter | |
| ENST00000685677.1:n.916C>T | ||
| ENST00000686697.1:c.1492C>T | ENSP00000508689.1:p.Arg498Ter | |
| ENST00000687054.1:n.2196C>T | ||
| ENST00000687219.1:c.*1205C>T | ENSP00000509736.1:n.*1205C>T | |
| ENST00000687528.1:c.1486C>T | ENSP00000510228.1:p.Arg496Ter | |
| ENST00000687643.1:c.1645C>T | ENSP00000509309.1:p.Arg549Ter | |
| ENST00000688934.1:c.-132-29525C>T | ENSP00000510760.1:n.-132-29525C>T | |
| ENST00000692450.1:c.*1283C>T | ENSP00000510283.1:n.*1283C>T | |
| ENST00000693085.1:c.*1445C>T | ENSP00000508746.1:n.*1445C>T | |
| ENST00000693604.1:c.*636C>T | ENSP00000509917.1:n.*636C>T | |
| ENST00000507142.6:c.1618C>T MANE Select | ENSP00000424757.2:p.Arg540Ter | |
| ENST00000439128.6:c.1618C>T | ENSP00000408020.2:p.Arg540Ter | |
| ENST00000507142.5:c.1618C>T | ENSP00000424757.1:p.Arg540Ter | |
| ENST00000510533.5:c.1486C>T | ENSP00000427653.1:p.Arg496Ter | |
| ENST00000511633.5:c.1486C>T | ENSP00000423332.1:p.Arg496Ter | |
| ENST00000512193.5:c.1411C>T | ENSP00000424938.1:p.Arg471Ter | |
| NM_001199397.1:c.1618C>T | NP_001186326.1:p.Arg540Ter | |
| NM_001199398.1:c.1486C>T | NP_001186327.1:p.Arg496Ter | |
| NM_001199399.1:c.1411C>T | NP_001186328.1:p.Arg471Ter | |
| NM_001199400.1:c.1486C>T | NP_001186329.1:p.Arg496Ter | |
| NM_012224.2:c.1618C>T | NP_036356.1:p.Arg540Ter | |
| XM_006714228.1:c.1618C>T | XP_006714291.1:p.Arg540Ter | |
| XM_011532003.1:c.1618C>T | XP_011530305.1:p.Arg540Ter | |
| XM_011532004.1:c.1486C>T | XP_011530306.1:p.Arg496Ter | |
| XM_011532005.1:c.1618C>T | XP_011530307.1:p.Arg540Ter | |
| XM_011532005.2:c.1618C>T | XP_011530307.1:p.Arg540Ter | |
| XM_017008249.1:c.997C>T | XP_016863738.1:p.Arg333Ter | |
| XM_017008251.1:c.997C>T | XP_016863740.1:p.Arg333Ter | |
| XM_017008252.2:c.997C>T | XP_016863741.1:p.Arg333Ter | |
| XM_017008253.1:c.466C>T | XP_016863742.1:p.Arg156Ter | |
| XM_017008254.1:c.262C>T | XP_016863743.1:p.Arg88Ter | |
| XM_024454065.1:c.997C>T | XP_024309833.1:p.Arg333Ter | |
| XR_001741233.1:n.2198C>T | ||
| XR_001741234.2:n.2011C>T | ||
| NM_001199397.3:c.1618C>T MANE Select | NP_001186326.1:p.Arg540Ter | |
| NM_001199398.2:c.1486C>T | NP_001186327.1:p.Arg496Ter | |
| NM_001199399.2:c.1411C>T | NP_001186328.1:p.Arg471Ter | |
| NM_001199400.2:c.1486C>T | NP_001186329.1:p.Arg496Ter | |
| NM_001374418.1:c.1618C>T | NP_001361347.1:p.Arg540Ter | |
| NM_001374419.1:c.1618C>T | NP_001361348.1:p.Arg540Ter | |
| NM_001374420.1:c.1567C>T | NP_001361349.1:p.Arg523Ter | |
| NM_001374421.1:c.1492C>T | NP_001361350.1:p.Arg498Ter | |
| NM_012224.3:c.1618C>T | NP_036356.1:p.Arg540Ter | |
| NR_164630.1:n.2164C>T | ||
| NM_001199398.3:c.1486C>T | NP_001186327.1:p.Arg496Ter | |
| NM_001199399.3:c.1411C>T | NP_001186328.1:p.Arg471Ter | |
| NM_001199400.3:c.1486C>T | NP_001186329.1:p.Arg496Ter | |
| NM_012224.4:c.1618C>T | NP_036356.1:p.Arg540Ter |