gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40756357 (EAS)
Genomes Max Group AF
0.41674363 (EAS)
Exomes Max Group AF
0.4036551 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.230368C>T , CM000673.2:g.230368C>T | GRCh38 |
| NC_000011.9:g.230368C>T , CM000673.1:g.230368C>T | GRCh37 |
| NC_000011.8:g.220368C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382743.9:c.807+84G>A MANE Select | ENSP00000372191.4:n.807+84G>A | |
| ENST00000382743.8:c.807+84G>A | ENSP00000372191.4:n.807+84G>A | |
| ENST00000524564.5:c.615+84G>A | ENSP00000432937.1:n.615+84G>A | |
| ENST00000525319.5:c.564+84G>A | ENSP00000435464.1:n.564+84G>A | |
| ENST00000526854.5:c.*422+84G>A | ENSP00000435505.1:n.*422+84G>A | |
| ENST00000528702.5:n.842+84G>A | ||
| ENST00000529055.5:c.*609+84G>A | ENSP00000437179.1:n.*609+84G>A | |
| ENST00000529382.5:c.381+84G>A | ENSP00000437216.1:n.381+84G>A | |
| ENST00000529937.1:c.135+5826G>A | ENSP00000434747.1:n.135+5826G>A | |
| ENST00000531753.5:n.443+2615G>A | ||
| ENST00000532837.5:c.*520+84G>A | ENSP00000433899.1:n.*520+84G>A | |
| ENST00000532956.5:c.807+84G>A | ENSP00000433077.1:n.807+84G>A | |
| ENST00000534381.1:n.241+84G>A | ||
| NM_001017524.2:c.381+84G>A | NP_001017524.1:n.381+84G>A | |
| NM_012239.5:c.807+84G>A | NP_036371.1:n.807+84G>A | |
| XM_005252835.1:c.807+84G>A | XP_005252892.1:n.807+84G>A | |
| XM_011519956.1:c.381+84G>A | XP_011518258.1:n.381+84G>A | |
| XM_011519957.1:c.381+84G>A | XP_011518259.1:n.381+84G>A | |
| XM_011519956.2:c.381+84G>A | XP_011518258.1:n.381+84G>A | |
| XM_011519957.2:c.381+84G>A | XP_011518259.1:n.381+84G>A | |
| XM_017017428.1:c.381+84G>A | XP_016872917.1:n.381+84G>A | |
| XM_017017429.1:c.381+84G>A | XP_016872918.1:n.381+84G>A | |
| XM_017017430.2:c.381+84G>A | XP_016872919.1:n.381+84G>A | |
| XM_017017431.1:c.381+84G>A | XP_016872920.1:n.381+84G>A | |
| XM_024448410.1:c.381+84G>A | XP_024304178.1:n.381+84G>A | |
| XR_001747817.1:n.930+84G>A | ||
| NM_012239.6:c.807+84G>A MANE Select | NP_036371.1:n.807+84G>A | |
| NM_001370310.1:c.807+84G>A | NP_001357239.1:n.807+84G>A | |
| NM_001370312.1:c.615+84G>A | NP_001357241.1:n.615+84G>A | |
| NM_001370314.1:c.807+84G>A | NP_001357243.1:n.807+84G>A | |
| NM_001370315.1:c.564+84G>A | NP_001357244.1:n.564+84G>A | |
| NM_001370316.1:c.135+5826G>A | NP_001357245.1:n.135+5826G>A | |
| NM_001370317.1:c.-9-6129G>A | NP_001357246.1:n.-9-6129G>A | |
| NM_001370318.1:c.381+84G>A | NP_001357247.1:n.381+84G>A | |
| NM_001370319.1:c.381+84G>A | NP_001357248.1:n.381+84G>A | |
| NM_001370320.1:c.381+84G>A | NP_001357249.1:n.381+84G>A | |
| NM_001370321.1:c.381+84G>A | NP_001357250.1:n.381+84G>A | |
| NM_001370322.1:c.381+84G>A | NP_001357251.1:n.381+84G>A | |
| NM_001370323.1:c.381+84G>A | NP_001357252.1:n.381+84G>A | |
| NM_001370324.1:c.381+84G>A | NP_001357253.1:n.381+84G>A | |
| NM_001370325.1:c.381+84G>A | NP_001357254.1:n.381+84G>A | |
| NR_163386.1:n.996+84G>A | ||
| NR_163387.1:n.842+84G>A | ||
| NR_163388.1:n.931+84G>A | ||
| NR_163389.1:n.842+84G>A | ||
| NR_163390.1:n.931+84G>A | ||
| NR_163391.1:n.741+2615G>A | ||
| NR_163392.1:n.931+84G>A | ||
| NR_163393.1:n.996+84G>A | ||
| NR_163394.1:n.829+84G>A | ||
| NR_163395.1:n.675+84G>A | ||
| NR_163396.1:n.910+84G>A | ||
| NR_163397.1:n.675+84G>A | ||
| NR_163398.1:n.829+84G>A | ||
| NR_163399.1:n.821+84G>A | ||
| NR_163400.1:n.764+84G>A | ||
| NR_163401.1:n.910+84G>A | ||
| NR_163402.1:n.821+84G>A | ||
| NM_001017524.3:c.381+84G>A | NP_001017524.1:n.381+84G>A |