gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201361989G>T , CM000663.2:g.201361989G>T | GRCh38 |
| NC_000001.10:g.201331117G>T , CM000663.1:g.201331117G>T | GRCh37 |
| NC_000001.9:g.199597740G>T | NCBI36 |
| NG_007556.1:g.20689C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455702.7:c.628C>A | ENSP00000402238.3:p.Arg210= | |
| ENST00000367318.10:c.613C>A | ENSP00000356287.5:p.Arg205= | |
| ENST00000367322.6:c.601C>A | ENSP00000356291.2:p.Arg201= | |
| ENST00000412633.3:c.604C>A | ENSP00000408731.2:p.Arg202= | |
| ENST00000422165.6:c.634C>A | ENSP00000395163.2:p.Arg212= | |
| ENST00000438742.6:c.592C>A | ENSP00000414036.2:p.Arg198= | |
| ENST00000455702.6:c.628C>A | ENSP00000402238.2:p.Arg210= | |
| ENST00000651504.1:n.1104C>A | ||
| ENST00000656932.1:c.643C>A MANE Select | ENSP00000499593.1:p.Arg215= | |
| ENST00000658476.1:c.613C>A | ENSP00000499741.1:p.Arg205= | |
| ENST00000660295.1:c.613C>A | ENSP00000499418.1:p.Arg205= | |
| ENST00000662159.1:c.*2C>A | ENSP00000499796.1:n.*2C>A | |
| ENST00000663843.1:c.*543C>A | ENSP00000499590.1:n.*543C>A | |
| ENST00000666449.1:c.613C>A | ENSP00000499667.1:p.Arg205= | |
| ENST00000236918.11:c.643C>A | ENSP00000236918.8:p.Arg215= | |
| ENST00000360372.8:c.514C>A | ENSP00000353535.5:p.Arg172= | |
| ENST00000367315.6:c.622C>A | ENSP00000356284.3:p.Arg208= | |
| ENST00000367317.8:c.595C>A | ENSP00000356286.5:p.Arg199= | |
| ENST00000367318.9:c.613C>A | ENSP00000356287.5:p.Arg205= | |
| ENST00000367320.6:c.514C>A | ENSP00000356289.2:p.Arg172= | |
| ENST00000367322.5:c.604C>A | ENSP00000356291.1:p.Arg202= | |
| ENST00000421663.6:c.427C>A | ENSP00000404134.3:p.Arg143= | |
| ENST00000438742.5:c.595C>A | ENSP00000414036.1:p.Arg199= | |
| ENST00000458432.6:c.427C>A | ENSP00000387874.3:p.Arg143= | |
| ENST00000460780.5:n.936C>A | ||
| ENST00000476888.5:n.98C>A | ||
| ENST00000491504.5:n.1852C>A | ||
| ENST00000509001.5:c.613C>A | ENSP00000422031.1:p.Arg205= | |
| ENST00000515042.5:n.539C>A | ||
| NM_000364.3:c.634C>A | NP_000355.2:p.Arg212= | |
| NM_001001430.2:c.613C>A | NP_001001430.1:p.Arg205= | |
| NM_001001431.2:c.604C>A | NP_001001431.1:p.Arg202= | |
| NM_001001432.2:c.595C>A | NP_001001432.1:p.Arg199= | |
| NM_001276345.1:c.643C>A | NP_001263274.1:p.Arg215= | |
| NM_001276346.1:c.514C>A | NP_001263275.1:p.Arg172= | |
| NM_001276347.1:c.613C>A | NP_001263276.1:p.Arg205= | |
| XM_006711508.2:c.613C>A | XP_006711571.1:p.Arg205= | |
| XM_006711509.2:c.610C>A | XP_006711572.1:p.Arg204= | |
| XM_011509938.1:c.643C>A | XP_011508240.1:p.Arg215= | |
| XM_011509939.1:c.640C>A | XP_011508241.1:p.Arg214= | |
| XM_011509940.1:c.640C>A | XP_011508242.1:p.Arg214= | |
| XM_011509941.1:c.637C>A | XP_011508243.1:p.Arg213= | |
| XM_011509942.1:c.598C>A | XP_011508244.1:p.Arg200= | |
| XM_011509943.1:c.598C>A | XP_011508245.1:p.Arg200= | |
| XM_011509944.1:c.595C>A | XP_011508246.1:p.Arg199= | |
| XM_011509946.1:c.436C>A | XP_011508248.1:p.Arg146= | |
| XM_006711508.3:c.613C>A | XP_006711571.1:p.Arg205= | |
| XM_006711509.3:c.610C>A | XP_006711572.1:p.Arg204= | |
| XM_011509938.2:c.643C>A | XP_011508240.1:p.Arg215= | |
| XM_011509940.2:c.640C>A | XP_011508242.1:p.Arg214= | |
| XM_011509941.2:c.637C>A | XP_011508243.1:p.Arg213= | |
| XM_011509942.2:c.598C>A | XP_011508244.1:p.Arg200= | |
| XM_011509943.2:c.598C>A | XP_011508245.1:p.Arg200= | |
| XM_011509944.2:c.595C>A | XP_011508246.1:p.Arg199= | |
| XM_017002216.2:c.610C>A | XP_016857705.1:p.Arg204= | |
| XM_017002217.1:c.604C>A | XP_016857706.1:p.Arg202= | |
| XM_024449450.1:c.643C>A | XP_024305218.1:p.Arg215= | |
| XM_024449454.1:c.610C>A | XP_024305222.1:p.Arg204= | |
| XM_024449455.1:c.610C>A | XP_024305223.1:p.Arg204= | |
| NM_000364.4:c.634C>A | NP_000355.2:p.Arg212= | |
| NM_001001430.3:c.613C>A | NP_001001430.1:p.Arg205= | |
| NM_001001431.3:c.604C>A | NP_001001431.1:p.Arg202= | |
| NM_001001432.3:c.595C>A | NP_001001432.1:p.Arg199= | |
| NM_001276345.2:c.643C>A MANE Select | NP_001263274.1:p.Arg215= | |
| NM_001276346.2:c.514C>A | NP_001263275.1:p.Arg172= | |
| NM_001276347.2:c.613C>A | NP_001263276.1:p.Arg205= |