gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3411419 (EAS)
Genomes Max Group AF
0.3411419 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.93345150G>A , CM000668.2:g.93345150G>A | GRCh38 |
| NC_000006.11:g.94054868G>A , CM000668.1:g.94054868G>A | GRCh37 |
| NC_000006.10:g.94111589G>A | NCBI36 |
| NG_033944.1:g.79433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369303.9:c.1324+11567C>T MANE Select | ENSP00000358309.4:n.1324+11567C>T | |
| ENST00000679565.1:c.1324+11567C>T | ENSP00000506548.1:n.1324+11567C>T | |
| ENST00000679915.1:n.1536+11567C>T | ||
| ENST00000680082.1:c.1324+11567C>T | ENSP00000506654.1:n.1324+11567C>T | |
| ENST00000680190.1:c.1096+11567C>T | ENSP00000505937.1:n.1096+11567C>T | |
| ENST00000680224.1:c.1324+11567C>T | ENSP00000506130.1:n.1324+11567C>T | |
| ENST00000680473.1:n.1562+11567C>T | ||
| ENST00000680813.1:n.566+11567C>T | ||
| ENST00000680953.1:c.1096+11567C>T | ENSP00000505682.1:n.1096+11567C>T | |
| ENST00000681130.1:c.1324+11567C>T | ENSP00000505801.1:n.1324+11567C>T | |
| ENST00000681503.1:n.1538-1342C>T | ||
| ENST00000681532.1:c.1324+11567C>T | ENSP00000505741.1:n.1324+11567C>T | |
| ENST00000681647.1:n.1535+11567C>T | ||
| ENST00000369303.8:c.1324+11567C>T | ENSP00000358309.4:n.1324+11567C>T | |
| NM_001288629.1:c.1324+11567C>T | NP_001275558.1:n.1324+11567C>T | |
| NM_004440.3:c.1324+11567C>T | NP_004431.1:n.1324+11567C>T | |
| XM_005248669.1:c.1324+11567C>T | XP_005248726.1:n.1324+11567C>T | |
| XM_005248671.1:c.1324+11567C>T | XP_005248728.1:n.1324+11567C>T | |
| XM_005248669.3:c.1324+11567C>T | XP_005248726.1:n.1324+11567C>T | |
| XM_005248671.3:c.1324+11567C>T | XP_005248728.1:n.1324+11567C>T | |
| XM_017010365.2:c.1324+11567C>T | XP_016865854.1:n.1324+11567C>T | |
| XM_017010366.2:c.1325-1403C>T | XP_016865855.1:n.1325-1403C>T | |
| XR_001743218.2:n.1567+11567C>T | ||
| NM_004440.4:c.1324+11567C>T MANE Select | NP_004431.1:n.1324+11567C>T | |
| NM_001288629.2:c.1324+11567C>T | NP_001275558.1:n.1324+11567C>T | |
| NM_001376465.1:c.1324+11567C>T | NP_001363394.1:n.1324+11567C>T | |
| NM_001376466.1:c.1324+11567C>T | NP_001363395.1:n.1324+11567C>T | |
| NM_001376467.1:c.1324+11567C>T | NP_001363396.1:n.1324+11567C>T | |
| NM_001376468.1:c.1324+11567C>T | NP_001363397.1:n.1324+11567C>T | |
| NM_001376469.1:c.1325-1342C>T | NP_001363398.1:n.1325-1342C>T | |
| NM_001376470.1:c.1096+11567C>T | NP_001363399.1:n.1096+11567C>T | |
| NM_001376471.1:c.1096+11567C>T | NP_001363400.1:n.1096+11567C>T | |
| NR_164810.1:n.1542+11567C>T |