Linked Data
dbSNP Id:
rs1180204445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625719A>C , CM000673.2:g.22625719A>C | GRCh38 |
| NC_000011.9:g.22647265A>C , CM000673.1:g.22647265A>C | GRCh37 |
| NC_000011.8:g.22603841A>C | NCBI36 |
| NG_007425.1:g.5123T>G , LRG_527:g.5123T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.92T>G (FANCF) MANE Select | ENSP00000330875.3:p.Val31Gly | |
| ENST00000648096.1:n.211A>C (GAS2) | ||
| ENST00000327470.4:c.92T>G (FANCF) | ENSP00000330875.3:p.Val31Gly | |
| ENST00000528582.5:c.-115A>C (GAS2) | ENSP00000432584.1:n.-115A>C | |
| NM_022725.3:c.92T>G , LRG_527t1:c.92T>G (FANCF) | NP_073562.1:p.Val31Gly | |
| NM_022725.4:c.92T>G (FANCF) MANE Select | NP_073562.1:p.Val31Gly |