Linked Data
ClinVar Variation Id:
1916259
ClinVar RCV Id:
RCV002594446
dbSNP Id:
rs764970229
ExAC:
4:187117242 G / A
gnomAD v2:
4-187117242-G-A
gnomAD v4:
4-186196088-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186196088G>A , CM000666.2:g.186196088G>A | GRCh38 |
| NC_000004.11:g.187117242G>A , CM000666.1:g.187117242G>A | GRCh37 |
| NC_000004.10:g.187354236G>A | NCBI36 |
| NG_007965.1:g.9569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.413G>A MANE Select | ENSP00000368079.4:p.Ser138Asn | |
| ENST00000378802.4:c.413G>A | ENSP00000368079.4:p.Ser138Asn | |
| ENST00000507209.5:n.1G>A | ||
| NM_207352.3:c.413G>A | NP_997235.3:p.Ser138Asn | |
| XM_005262935.2:c.413G>A | XP_005262992.1:p.Ser138Asn | |
| XM_006714184.2:c.18-852G>A | XP_006714247.1:n.18-852G>A | |
| XM_005262935.4:c.413G>A | XP_005262992.1:p.Ser138Asn | |
| XM_017008037.1:c.18-852G>A | XP_016863526.1:n.18-852G>A | |
| NM_207352.4:c.413G>A MANE Select | NP_997235.3:p.Ser138Asn |