Linked Data
dbSNP Id:
rs1590542209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625621T>G , CM000673.2:g.22625621T>G | GRCh38 |
| NC_000011.9:g.22647167T>G , CM000673.1:g.22647167T>G | GRCh37 |
| NC_000011.8:g.22603743T>G | NCBI36 |
| NG_007425.1:g.5221A>C , LRG_527:g.5221A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.190A>C (FANCF) MANE Select | ENSP00000330875.3:p.Asn64His | |
| ENST00000648096.1:n.113T>G (GAS2) | ||
| ENST00000327470.4:c.190A>C (FANCF) | ENSP00000330875.3:p.Asn64His | |
| NM_022725.3:c.190A>C , LRG_527t1:c.190A>C (FANCF) | NP_073562.1:p.Asn64His | |
| NM_022725.4:c.190A>C (FANCF) MANE Select | NP_073562.1:p.Asn64His |