Linked Data
ClinVar Variation Id:
48158
dbSNP Id:
rs2028574
ExAC:
3:191093175 T / A
gnomAD v2:
3-191093175-T-A
gnomAD v3:
3-191375386-T-A
gnomAD v4:
3-191375386-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375386T>A , CM000665.2:g.191375386T>A | GRCh38 |
| NC_000003.11:g.191093175T>A , CM000665.1:g.191093175T>A | GRCh37 |
| NC_000003.10:g.192575869T>A | NCBI36 |
| NG_008994.1:g.51302T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392455.9:c.773T>A MANE Select | ENSP00000376249.4:p.Ile258Asn | |
| ENST00000392456.4:c.449-4773T>A | ENSP00000376250.4:n.449-4773T>A | |
| ENST00000392455.7:c.449-4773T>A | ENSP00000376249.3:n.449-4773T>A | |
| ENST00000392456.3:c.773T>A | ENSP00000376250.3:p.Ile258Asn | |
| NM_174908.3:c.449-4773T>A | NP_777568.1:n.449-4773T>A | |
| NM_178335.2:c.773T>A | NP_848018.1:p.Ile258Asn | |
| XM_011512460.1:c.773T>A | XP_011510762.1:p.Ile258Asn | |
| NM_178335.3:c.773T>A MANE Select | NP_848018.1:p.Ile258Asn | |
| NM_174908.4:c.449-4773T>A | NP_777568.1:n.449-4773T>A |