Linked Data
ClinVar Variation Id:
2179413
ClinVar RCV Id:
RCV002599050
dbSNP Id:
rs199687225
ExAC:
3:191093029 G / A
gnomAD v2:
3-191093029-G-A
gnomAD v3:
3-191375240-G-A
gnomAD v4:
3-191375240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375240G>A , CM000665.2:g.191375240G>A | GRCh38 |
| NC_000003.11:g.191093029G>A , CM000665.1:g.191093029G>A | GRCh37 |
| NC_000003.10:g.192575723G>A | NCBI36 |
| NG_008994.1:g.51156G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.627G>A MANE Select | ENSP00000376249.4:p.Ser209= | |
| ENST00000392456.4:c.449-4919G>A | ENSP00000376250.4:n.449-4919G>A | |
| ENST00000392455.7:c.449-4919G>A | ENSP00000376249.3:n.449-4919G>A | |
| ENST00000392456.3:c.627G>A | ENSP00000376250.3:p.Ser209= | |
| NM_174908.3:c.449-4919G>A | NP_777568.1:n.449-4919G>A | |
| NM_178335.2:c.627G>A | NP_848018.1:p.Ser209= | |
| XM_011512460.1:c.627G>A | XP_011510762.1:p.Ser209= | |
| NM_178335.3:c.627G>A MANE Select | NP_848018.1:p.Ser209= | |
| NM_174908.4:c.449-4919G>A | NP_777568.1:n.449-4919G>A |