Linked Data
dbSNP Id:
rs750121502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625525G>A , CM000673.2:g.22625525G>A | GRCh38 |
| NC_000011.9:g.22647071G>A , CM000673.1:g.22647071G>A | GRCh37 |
| NC_000011.8:g.22603647G>A | NCBI36 |
| NG_007425.1:g.5317C>T , LRG_527:g.5317C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.286C>T (FANCF) MANE Select | ENSP00000330875.3:p.Arg96Cys | |
| ENST00000648096.1:n.17G>A (GAS2) | ||
| ENST00000327470.4:c.286C>T (FANCF) | ENSP00000330875.3:p.Arg96Cys | |
| NM_022725.3:c.286C>T , LRG_527t1:c.286C>T (FANCF) | NP_073562.1:p.Arg96Cys | |
| NM_022725.4:c.286C>T (FANCF) MANE Select | NP_073562.1:p.Arg96Cys |