gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000615 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169555782A>G , CM000666.2:g.169555782A>G | GRCh38 |
| NC_000004.11:g.170476933A>G , CM000666.1:g.170476933A>G | GRCh37 |
| NC_000004.10:g.170713508A>G | NCBI36 |
| NG_027982.1:g.61846T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.1416T>C | ENSP00000508844.1:p.Ala472= | |
| ENST00000685677.1:n.798T>C | ||
| ENST00000686697.1:c.1374T>C | ENSP00000508689.1:p.Ala458= | |
| ENST00000687054.1:n.2078T>C | ||
| ENST00000687219.1:c.*1087T>C | ENSP00000509736.1:n.*1087T>C | |
| ENST00000687528.1:c.1430+150T>C | ENSP00000510228.1:n.1430+150T>C | |
| ENST00000687643.1:c.1527T>C | ENSP00000509309.1:p.Ala509= | |
| ENST00000688487.1:n.1863T>C | ||
| ENST00000688934.1:c.-132-47451T>C | ENSP00000510760.1:n.-132-47451T>C | |
| ENST00000690631.1:n.2077T>C | ||
| ENST00000692450.1:c.*1227+150T>C | ENSP00000510283.1:n.*1227+150T>C | |
| ENST00000693085.1:c.*1327T>C | ENSP00000508746.1:n.*1327T>C | |
| ENST00000693604.1:c.*518T>C | ENSP00000509917.1:n.*518T>C | |
| ENST00000507142.6:c.1500T>C MANE Select | ENSP00000424757.2:p.Ala500= | |
| ENST00000439128.6:c.1500T>C | ENSP00000408020.2:p.Ala500= | |
| ENST00000507142.5:c.1500T>C | ENSP00000424757.1:p.Ala500= | |
| ENST00000509912.5:n.1232T>C | ||
| ENST00000510533.5:c.1430+150T>C | ENSP00000427653.1:n.1430+150T>C | |
| ENST00000511633.5:c.1430+150T>C | ENSP00000423332.1:n.1430+150T>C | |
| ENST00000512193.5:c.1355+150T>C | ENSP00000424938.1:n.1355+150T>C | |
| NM_001199397.1:c.1500T>C | NP_001186326.1:p.Ala500= | |
| NM_001199398.1:c.1430+150T>C | NP_001186327.1:n.1430+150T>C | |
| NM_001199399.1:c.1355+150T>C | NP_001186328.1:n.1355+150T>C | |
| NM_001199400.1:c.1430+150T>C | NP_001186329.1:n.1430+150T>C | |
| NM_012224.2:c.1500T>C | NP_036356.1:p.Ala500= | |
| XM_006714228.1:c.1500T>C | XP_006714291.1:p.Ala500= | |
| XM_011532003.1:c.1500T>C | XP_011530305.1:p.Ala500= | |
| XM_011532004.1:c.1430+150T>C | XP_011530306.1:n.1430+150T>C | |
| XM_011532005.1:c.1500T>C | XP_011530307.1:p.Ala500= | |
| XM_011532005.2:c.1500T>C | XP_011530307.1:p.Ala500= | |
| XM_017008249.1:c.879T>C | XP_016863738.1:p.Ala293= | |
| XM_017008251.1:c.879T>C | XP_016863740.1:p.Ala293= | |
| XM_017008252.2:c.879T>C | XP_016863741.1:p.Ala293= | |
| XM_017008253.1:c.348T>C | XP_016863742.1:p.Ala116= | |
| XM_017008254.1:c.144T>C | XP_016863743.1:p.Ala48= | |
| XM_024454065.1:c.879T>C | XP_024309833.1:p.Ala293= | |
| XR_001741233.1:n.2080T>C | ||
| XR_001741234.2:n.1955+150T>C | ||
| NM_001199397.3:c.1500T>C MANE Select | NP_001186326.1:p.Ala500= | |
| NM_001199398.2:c.1430+150T>C | NP_001186327.1:n.1430+150T>C | |
| NM_001199399.2:c.1355+150T>C | NP_001186328.1:n.1355+150T>C | |
| NM_001199400.2:c.1430+150T>C | NP_001186329.1:n.1430+150T>C | |
| NM_001374418.1:c.1500T>C | NP_001361347.1:p.Ala500= | |
| NM_001374419.1:c.1500T>C | NP_001361348.1:p.Ala500= | |
| NM_001374420.1:c.1449T>C | NP_001361349.1:p.Ala483= | |
| NM_001374421.1:c.1374T>C | NP_001361350.1:p.Ala458= | |
| NM_012224.3:c.1500T>C | NP_036356.1:p.Ala500= | |
| NR_164630.1:n.2014T>C | ||
| NM_001199398.3:c.1430+150T>C | NP_001186327.1:n.1430+150T>C | |
| NM_001199399.3:c.1355+150T>C | NP_001186328.1:n.1355+150T>C | |
| NM_001199400.3:c.1430+150T>C | NP_001186329.1:n.1430+150T>C | |
| NM_012224.4:c.1500T>C | NP_036356.1:p.Ala500= |