Linked Data
ClinVar Variation Id:
6583
dbSNP Id:
rs104893685
ExAC:
3:133169276 C / T
gnomAD v2:
3-133169276-C-T
gnomAD v3:
3-133450432-C-T
gnomAD v4:
3-133450432-C-T
COSMIC:
COSM248942
PubMed:
PMID:10729115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133450432C>T , CM000665.2:g.133450432C>T | GRCh38 |
| NC_000003.11:g.133169276C>T , CM000665.1:g.133169276C>T | GRCh37 |
| NC_000003.10:g.134651966C>T | NCBI36 |
| NG_012425.1:g.55487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302334.3:c.859C>T (BFSP2) MANE Select | ENSP00000304987.2:p.Arg287Trp | |
| ENST00000302334.2:c.859C>T (BFSP2) | ENSP00000304987.2:p.Arg287Trp | |
| ENST00000510039.1:n.10C>T (BFSP2) | ||
| ENST00000511434.1:n.325C>T (BFSP2) | ||
| NM_003571.3:c.859C>T (BFSP2) | NP_003562.1:p.Arg287Trp | |
| XR_241567.2:n.629-1537G>A (BFSP2-AS1) | ||
| XR_924501.1:n.629-1537G>A (BFSP2-AS1) | ||
| NR_135276.1:n.381-1537G>A (BFSP2-AS1) | ||
| NR_135277.1:n.381-4857G>A (BFSP2-AS1) | ||
| NR_135278.1:n.168-1537G>A (BFSP2-AS1) | ||
| XM_017007315.1:c.859C>T (BFSP2) | XP_016862804.1:p.Arg287Trp | |
| XM_024453788.1:c.199C>T (BFSP2) | XP_024309556.1:p.Arg67Trp | |
| XM_024453789.1:c.82C>T (BFSP2) | XP_024309557.1:p.Arg28Trp | |
| NM_003571.4:c.859C>T (BFSP2) MANE Select | NP_003562.1:p.Arg287Trp |