Linked Data
ClinVar Variation Id:
343417
ClinVar RCV Id:
RCV000390825
dbSNP Id:
rs150374124
gnomAD v3:
3-133475181-C-T
gnomAD v4:
3-133475181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133475181C>T , CM000665.2:g.133475181C>T | GRCh38 |
| NC_000003.11:g.133194025C>T , CM000665.1:g.133194025C>T | GRCh37 |
| NC_000003.10:g.134676715C>T | NCBI36 |
| NG_012425.1:g.80236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302334.3:c.*209C>T (BFSP2) MANE Select | ENSP00000304987.2:n.*209C>T | |
| ENST00000302334.2:c.*209C>T (BFSP2) | ENSP00000304987.2:n.*209C>T | |
| ENST00000503047.1:n.437C>T (BFSP2) | ||
| ENST00000510039.1:n.602C>T (BFSP2) | ||
| NM_003571.3:c.*209C>T (BFSP2) | NP_003562.1:n.*209C>T | |
| NR_135276.1:n.245+15721G>A (BFSP2-AS1) | ||
| NR_135277.1:n.245+15721G>A (BFSP2-AS1) | ||
| XM_024453788.1:c.*209C>T (BFSP2) | XP_024309556.1:n.*209C>T | |
| XM_024453789.1:c.*209C>T (BFSP2) | XP_024309557.1:n.*209C>T | |
| NM_003571.4:c.*209C>T (BFSP2) MANE Select | NP_003562.1:n.*209C>T |