Linked Data
ClinVar Variation Id:
474094
ClinVar RCV Id:
RCV000552880
dbSNP Id:
rs146972354
ExAC:
3:133185734 G / T
gnomAD v2:
3-133185734-G-T
gnomAD v3:
3-133466890-G-T
gnomAD v4:
3-133466890-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133466890G>T , CM000665.2:g.133466890G>T | GRCh38 |
| NC_000003.11:g.133185734G>T , CM000665.1:g.133185734G>T | GRCh37 |
| NC_000003.10:g.134668424G>T | NCBI36 |
| NG_012425.1:g.71945G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302334.3:c.954G>T (BFSP2) MANE Select | ENSP00000304987.2:p.Arg318Ser | |
| ENST00000302334.2:c.954G>T (BFSP2) | ENSP00000304987.2:p.Arg318Ser | |
| ENST00000510039.1:n.99G>T (BFSP2) | ||
| ENST00000511434.1:n.420G>T (BFSP2) | ||
| NM_003571.3:c.954G>T (BFSP2) | NP_003562.1:p.Arg318Ser | |
| NR_135276.1:n.246-11427C>A (BFSP2-AS1) | ||
| NR_135277.1:n.246-11427C>A (BFSP2-AS1) | ||
| XM_017007315.1:c.954G>T (BFSP2) | XP_016862804.1:p.Arg318Ser | |
| XM_024453788.1:c.294G>T (BFSP2) | XP_024309556.1:p.Arg98Ser | |
| XM_024453789.1:c.177G>T (BFSP2) | XP_024309557.1:p.Arg59Ser | |
| NM_003571.4:c.954G>T (BFSP2) MANE Select | NP_003562.1:p.Arg318Ser |