ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000212 (SAS)
Genomes Max Group AF
0.00001172 (NFE)
Exomes Max Group AF
0.00001594 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49476315G>A , CM000672.2:g.49476315G>A | GRCh38 |
| NC_000010.10:g.50684361G>A , CM000672.1:g.50684361G>A | GRCh37 |
| NC_000010.9:g.50354367G>A | NCBI36 |
| NG_009442.1:g.67787C>T , LRG_465:g.67787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2287-5C>T MANE Select | ENSP00000348089.5:n.2287-5C>T | |
| ENST00000681632.1:n.2365-5C>T | ||
| ENST00000681659.1:c.2128-5C>T | ENSP00000505631.1:n.2128-5C>T | |
| ENST00000355832.9:c.2287-5C>T | ENSP00000348089.5:n.2287-5C>T | |
| ENST00000623073.3:c.*678+2039C>T | ENSP00000485650.1:n.*678+2039C>T | |
| ENST00000623115.3:c.397-5C>T | ENSP00000485321.1:n.397-5C>T | |
| NM_000124.3:c.2287-5C>T | NP_000115.1:n.2287-5C>T | |
| NM_001346440.1:c.2287-5C>T | NP_001333369.1:n.2287-5C>T | |
| NM_000124.4:c.2287-5C>T MANE Select | NP_000115.1:n.2287-5C>T | |
| NM_001346440.2:c.2287-5C>T | NP_001333369.1:n.2287-5C>T |