gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001108 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001013 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.25733983C>G , CM000665.2:g.25733983C>G | GRCh38 |
| NC_000003.11:g.25775474C>G , CM000665.1:g.25775474C>G | GRCh37 |
| NC_000003.10:g.25750478C>G | NCBI36 |
| NG_034108.1:g.61057G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280700.10:c.1150-1G>C MANE Select | ENSP00000280700.5:n.1150-1G>C | |
| ENST00000463611.2:c.*1241-1G>C | ENSP00000501918.1:n.*1241-1G>C | |
| ENST00000674841.1:n.1273-1G>C | ||
| ENST00000675178.1:n.168-1G>C | ||
| ENST00000675217.1:c.*523-1G>C | ENSP00000502195.1:n.*523-1G>C | |
| ENST00000675234.1:c.*647-1G>C | ENSP00000502740.1:n.*647-1G>C | |
| ENST00000675680.1:c.629-1G>C | ||
| ENST00000676225.1:c.1120-1G>C | ENSP00000501622.1:n.1120-1G>C | |
| ENST00000280699.13:c.901-1G>C | ||
| ENST00000280700.9:c.1150-1G>C | ENSP00000280700.5:n.1150-1G>C | |
| ENST00000308710.9:c.1087-1G>C | ENSP00000307980.5:n.1087-1G>C | |
| ENST00000396649.7:c.1150-1G>C | ENSP00000379886.3:n.1150-1G>C | |
| ENST00000417874.6:c.1024-1G>C | ENSP00000389888.2:n.1024-1G>C | |
| ENST00000428257.5:c.1096-1G>C | ENSP00000387430.1:n.1096-1G>C | |
| ENST00000467224.5:n.2G>C | ||
| ENST00000493324.5:n.2053-1G>C | ||
| ENST00000496726.5:n.2364G>C | ||
| NM_001145293.1:c.1096-1G>C | NP_001138765.1:n.1096-1G>C | |
| NM_001145294.1:c.1024-1G>C | NP_001138766.1:n.1024-1G>C | |
| NM_001145295.1:c.1150-1G>C | NP_001138767.1:n.1150-1G>C | |
| NM_018297.3:c.1150-1G>C | NP_060767.2:n.1150-1G>C | |
| XM_005265316.1:c.1150-1G>C | XP_005265373.1:n.1150-1G>C | |
| XM_005265317.1:c.1150-1G>C | XP_005265374.1:n.1150-1G>C | |
| XM_011533944.1:c.919-1G>C | XP_011532246.1:n.919-1G>C | |
| XM_011533945.1:c.1004-1G>C | XP_011532247.1:n.1004-1G>C | |
| XR_940470.1:n.1203-1G>C | ||
| XR_940471.1:n.1295-1G>C | ||
| XM_017006839.2:c.1150-1G>C | XP_016862328.1:n.1150-1G>C | |
| XR_001740200.2:n.1295-1G>C | ||
| XR_002959548.1:n.1057-1G>C | ||
| XR_940471.2:n.1295-1G>C | ||
| NM_018297.4:c.1150-1G>C MANE Select | NP_060767.2:n.1150-1G>C | |
| NM_001145293.2:c.1096-1G>C | NP_001138765.1:n.1096-1G>C | |
| NM_001145294.2:c.1024-1G>C | NP_001138766.1:n.1024-1G>C | |
| NM_001145295.2:c.1150-1G>C | NP_001138767.1:n.1150-1G>C |