Linked Data
ClinVar Variation Id:
252953
ClinVar RCV Id:
RCV000490770
dbSNP Id:
rs774824478
ExAC:
3:133191301 C / A
gnomAD v2:
3-133191301-C-A
gnomAD v3:
3-133472457-C-A
gnomAD v4:
3-133472457-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133472457C>A , CM000665.2:g.133472457C>A | GRCh38 |
| NC_000003.11:g.133191301C>A , CM000665.1:g.133191301C>A | GRCh37 |
| NC_000003.10:g.134673991C>A | NCBI36 |
| NG_012425.1:g.77512C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302334.3:c.1136C>A (BFSP2) MANE Select | ENSP00000304987.2:p.Ala379Glu | |
| ENST00000302334.2:c.1136C>A (BFSP2) | ENSP00000304987.2:p.Ala379Glu | |
| ENST00000503047.1:n.116C>A (BFSP2) | ||
| ENST00000510039.1:n.281C>A (BFSP2) | ||
| ENST00000511434.1:n.602C>A (BFSP2) | ||
| NM_003571.3:c.1136C>A (BFSP2) | NP_003562.1:p.Ala379Glu | |
| NR_135276.1:n.246-16994G>T (BFSP2-AS1) | ||
| NR_135277.1:n.246-16994G>T (BFSP2-AS1) | ||
| XM_017007315.1:c.1136C>A (BFSP2) | XP_016862804.1:p.Ala379Glu | |
| XM_024453788.1:c.476C>A (BFSP2) | XP_024309556.1:p.Ala159Glu | |
| XM_024453789.1:c.359C>A (BFSP2) | XP_024309557.1:p.Ala120Glu | |
| NM_003571.4:c.1136C>A (BFSP2) MANE Select | NP_003562.1:p.Ala379Glu |