gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00209779 (NFE)
Genomes Max Group AF
0.00193007 (NFE)
Exomes Max Group AF
0.00209308 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25814192C>T , CM000663.2:g.25814192C>T | GRCh38 |
| NC_000001.10:g.26140683C>T , CM000663.1:g.26140683C>T | GRCh37 |
| NC_000001.9:g.26013270C>T | NCBI36 |
| NG_009930.1:g.19017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.1431+14C>T | ENSP00000346109.5:n.1431+14C>T | |
| ENST00000494537.2:c.1589+14C>T | ENSP00000508308.1:n.1589+14C>T | |
| ENST00000361547.7:c.1602+14C>T MANE Select | ENSP00000355141.2:n.1602+14C>T | |
| ENST00000354177.8:c.1500+14C>T | ENSP00000346109.4:n.1500+14C>T | |
| ENST00000361547.6:c.1602+14C>T | ENSP00000355141.2:n.1602+14C>T | |
| ENST00000374315.1:c.1500+14C>T | ENSP00000363434.1:n.1500+14C>T | |
| ENST00000494537.1:n.369+14C>T | ||
| ENST00000527604.1:c.123+14C>T | ENSP00000457066.1:n.123+14C>T | |
| ENST00000559265.1:n.255+2313C>T | ||
| ENST00000630065.2:c.30+14C>T | ENSP00000487549.1:n.30+14C>T | |
| NM_020451.2:c.1602+14C>T | NP_065184.2:n.1602+14C>T | |
| NM_206926.1:c.1500+14C>T | NP_996809.1:n.1500+14C>T | |
| NM_020451.3:c.1602+14C>T MANE Select | NP_065184.2:n.1602+14C>T | |
| NM_206926.2:c.1500+14C>T | NP_996809.1:n.1500+14C>T |