ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001724 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001663 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219147649C>G , CM000664.2:g.219147649C>G | GRCh38 |
| NC_000002.11:g.220012371C>G , CM000664.1:g.220012371C>G | GRCh37 |
| NC_000002.10:g.219720615C>G | NCBI36 |
| NG_007880.1:g.18217G>C , LRG_90:g.18217G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.529+8G>C | ENSP00000394896.2:n.529+8G>C | |
| ENST00000457600.3:c.529+8G>C | ENSP00000407201.2:n.529+8G>C | |
| ENST00000698174.1:c.529+8G>C | ENSP00000513594.1:n.529+8G>C | |
| ENST00000698175.1:c.*276+8G>C | ENSP00000513595.1:n.*276+8G>C | |
| ENST00000698176.1:n.601+8G>C | ||
| ENST00000698202.1:c.529+8G>C | ENSP00000513605.1:n.529+8G>C | |
| ENST00000698203.1:c.529+8G>C | ENSP00000513606.1:n.529+8G>C | |
| ENST00000356853.10:c.529+8G>C MANE Select | ENSP00000349313.5:n.529+8G>C | |
| ENST00000318673.6:c.*1651+8G>C | ENSP00000320919.3:n.*1651+8G>C | |
| ENST00000356853.9:c.529+8G>C | ENSP00000349313.5:n.529+8G>C | |
| ENST00000409720.5:c.529+8G>C | ENSP00000387290.1:n.529+8G>C | |
| ENST00000418099.5:c.529+8G>C | ENSP00000408966.1:n.529+8G>C | |
| ENST00000426304.5:c.289+8G>C | ENSP00000394896.1:n.289+8G>C | |
| ENST00000450447.1:c.*216+8G>C | ENSP00000408421.1:n.*216+8G>C | |
| ENST00000457600.2:c.529+8G>C | ENSP00000407201.1:n.529+8G>C | |
| ENST00000498327.5:n.2717+8G>C | ||
| NM_024782.2:c.529+8G>C , LRG_90t1:c.529+8G>C | NP_079058.1:n.529+8G>C | |
| NM_001377498.1:c.529+8G>C | NP_001364427.1:n.529+8G>C | |
| NM_001377499.1:c.529+8G>C | NP_001364428.1:n.529+8G>C | |
| NM_024782.3:c.529+8G>C MANE Select | NP_079058.1:n.529+8G>C | |
| NR_165304.1:n.625+8G>C |