gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11695449 (NFE)
Genomes Max Group AF
0.11695449 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225648975T>C , CM000663.2:g.225648975T>C | GRCh38 |
| NC_000001.10:g.225836677T>C , CM000663.1:g.225836677T>C | GRCh37 |
| NC_000001.9:g.223903300T>C | NCBI36 |
| NG_051578.1:g.16071A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366843.7:c.5+3711A>G MANE Select | ENSP00000355808.2:n.5+3711A>G | |
| ENST00000284563.7:c.5+3711A>G | ENSP00000284563.7:n.5+3711A>G | |
| ENST00000366843.6:c.5+3711A>G | ENSP00000355808.2:n.5+3711A>G | |
| ENST00000366844.7:c.5+3711A>G | ENSP00000355809.2:n.5+3711A>G | |
| ENST00000635051.1:c.5+3711A>G | ENSP00000489607.1:n.5+3711A>G | |
| NM_001008493.1:c.5+3711A>G | NP_001008493.1:n.5+3711A>G | |
| NM_018212.4:c.5+3711A>G | NP_060682.2:n.5+3711A>G | |
| XM_005273187.1:c.47+3343A>G | XP_005273244.1:n.47+3343A>G | |
| XM_006711795.1:c.47+3343A>G | XP_006711858.1:n.47+3343A>G | |
| XM_006711796.1:c.47+3343A>G | XP_006711859.1:n.47+3343A>G | |
| XM_006711797.1:c.47+3343A>G | XP_006711860.1:n.47+3343A>G | |
| XM_011544229.1:c.-35+3987A>G | XP_011542531.1:n.-35+3987A>G | |
| XM_011544230.1:c.5+3711A>G | XP_011542532.1:n.5+3711A>G | |
| XM_011544232.1:c.47+3343A>G | XP_011542534.1:n.47+3343A>G | |
| XM_011544233.1:c.-35+11013A>G | XP_011542535.1:n.-35+11013A>G | |
| XM_011544234.1:c.47+3343A>G | XP_011542536.1:n.47+3343A>G | |
| NM_001008493.2:c.5+3711A>G | NP_001008493.1:n.5+3711A>G | |
| NM_018212.5:c.5+3711A>G | NP_060682.2:n.5+3711A>G | |
| XM_011544229.2:c.791+3987A>G | XP_011542531.2:n.791+3987A>G | |
| XM_017001746.2:c.791+3987A>G | XP_016857235.1:n.791+3987A>G | |
| XM_017001747.1:c.791+3987A>G | XP_016857236.1:n.791+3987A>G | |
| XM_017001748.1:c.791+3987A>G | XP_016857237.1:n.791+3987A>G | |
| XM_017001749.1:c.791+3987A>G | XP_016857238.1:n.791+3987A>G | |
| XM_017001750.1:c.791+3987A>G | XP_016857239.1:n.791+3987A>G | |
| XM_017001751.1:c.791+3987A>G | XP_016857240.1:n.791+3987A>G | |
| XM_017001752.1:c.791+3987A>G | XP_016857241.1:n.791+3987A>G | |
| XM_024448305.1:c.791+3987A>G | XP_024304073.1:n.791+3987A>G | |
| XM_024448306.1:c.791+3987A>G | XP_024304074.1:n.791+3987A>G | |
| XM_024448307.1:c.791+3987A>G | XP_024304075.1:n.791+3987A>G | |
| XM_024448308.1:c.791+3987A>G | XP_024304076.1:n.791+3987A>G | |
| XM_024448309.1:c.47+3343A>G | XP_024304077.1:n.47+3343A>G | |
| XM_024448310.1:c.47+3343A>G | XP_024304078.1:n.47+3343A>G | |
| XM_024448311.1:c.5+3711A>G | XP_024304079.1:n.5+3711A>G | |
| XM_024448313.1:c.47+3343A>G | XP_024304081.1:n.47+3343A>G | |
| XM_024448315.1:c.5+3711A>G | XP_024304083.1:n.5+3711A>G | |
| XM_024448317.1:c.-35+11013A>G | XP_024304085.1:n.-35+11013A>G | |
| XM_024448318.1:c.791+3987A>G | XP_024304086.1:n.791+3987A>G | |
| XM_024448319.1:c.791+3987A>G | XP_024304087.1:n.791+3987A>G | |
| NM_001008493.3:c.5+3711A>G | NP_001008493.1:n.5+3711A>G | |
| NM_001377481.1:c.5+3711A>G | NP_001364410.1:n.5+3711A>G | |
| NM_001377482.1:c.5+3711A>G | NP_001364411.1:n.5+3711A>G | |
| NM_001377483.1:c.5+3711A>G | NP_001364412.1:n.5+3711A>G | |
| NM_018212.6:c.5+3711A>G MANE Select | NP_060682.2:n.5+3711A>G |