gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003316 (NFE)
Genomes Max Group AF
0.00007909 (NFE)
Exomes Max Group AF
0.00002589 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.111009838C>T , CM000672.2:g.111009838C>T | GRCh38 |
| NC_000010.10:g.112769596C>T , CM000672.1:g.112769596C>T | GRCh37 |
| NC_000010.9:g.112759586C>T | NCBI36 |
| NG_028922.1:g.95296C>T , LRG_753:g.95296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.1402+8C>T | ENSP00000265277.5:n.1402+8C>T | |
| ENST00000451838.2:c.457+8C>T | ENSP00000408275.2:n.457+8C>T | |
| ENST00000685059.1:c.1540+8C>T | ENSP00000510210.1:n.1540+8C>T | |
| ENST00000685613.1:c.*536+8C>T | ENSP00000510564.1:n.*536+8C>T | |
| ENST00000687592.1:n.2174C>T | ||
| ENST00000688928.1:c.1540+8C>T | ENSP00000509273.1:n.1540+8C>T | |
| ENST00000689118.1:c.1540+8C>T | ENSP00000510554.1:n.1540+8C>T | |
| ENST00000689300.1:c.1540+8C>T | ENSP00000510639.1:n.1540+8C>T | |
| ENST00000689997.1:c.457+8C>T | ENSP00000510700.1:n.457+8C>T | |
| ENST00000691369.1:c.1540+8C>T | ENSP00000509754.1:n.1540+8C>T | |
| ENST00000691441.1:c.1540+8C>T | ENSP00000509686.1:n.1540+8C>T | |
| ENST00000691903.1:c.1422+453C>T | ENSP00000510314.1:n.1422+453C>T | |
| ENST00000692776.1:c.1548C>T | ENSP00000508524.1:p.Asn516= | |
| ENST00000369452.9:c.1540+8C>T MANE Select | ENSP00000358464.5:n.1540+8C>T | |
| ENST00000265277.9:c.1402+8C>T | ENSP00000265277.5:n.1402+8C>T | |
| ENST00000369452.8:c.1540+8C>T | ENSP00000358464.4:n.1540+8C>T | |
| ENST00000451838.1:c.910+8C>T | ENSP00000408275.1:n.910+8C>T | |
| ENST00000489390.1:n.754+8C>T | ||
| NM_001269039.1:c.1402+8C>T | NP_001255968.1:n.1402+8C>T | |
| NM_007373.3:c.1540+8C>T , LRG_753t1:c.1540+8C>T | NP_031399.2:n.1540+8C>T | |
| XM_011540216.1:c.457+8C>T | XP_011538518.1:n.457+8C>T | |
| NM_001269039.2:c.1402+8C>T | NP_001255968.1:n.1402+8C>T | |
| NM_001324336.1:c.1540+8C>T | NP_001311265.1:n.1540+8C>T | |
| NM_001324337.1:c.1540+8C>T | NP_001311266.1:n.1540+8C>T | |
| NR_136749.1:n.952+8C>T | ||
| NM_007373.4:c.1540+8C>T MANE Select | NP_031399.2:n.1540+8C>T | |
| NM_001269039.3:c.1402+8C>T | NP_001255968.1:n.1402+8C>T | |
| NM_001324336.2:c.1540+8C>T | NP_001311265.1:n.1540+8C>T | |
| NM_001324337.2:c.1540+8C>T | NP_001311266.1:n.1540+8C>T | |
| NR_136749.2:n.891+8C>T |