ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000189 (NFE)
Exomes Max Group AF
0.00000136 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63971156C>T , CM000679.2:g.63971156C>T | GRCh38 |
| NC_000017.10:g.62048516C>T , CM000679.1:g.62048516C>T | GRCh37 |
| NC_000017.9:g.59402248C>T | NCBI36 |
| NG_011699.1:g.6763G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.703+6G>A MANE Select | ENSP00000396320.1:n.703+6G>A | |
| ENST00000578147.5:c.703+6G>A | ENSP00000463963.1:n.703+6G>A | |
| NM_000334.4:c.703+6G>A MANE Select | NP_000325.4:n.703+6G>A | |
| XM_005257566.3:c.703+6G>A | XP_005257623.1:n.703+6G>A |