Linked Data
ClinVar Variation Id:
1344762
ClinVar RCV Id:
RCV001849763
dbSNP Id:
rs181197485
ExAC:
18:50912508 G / A
gnomAD v2:
18-50912508-G-A
gnomAD v3:
18-53386138-G-A
gnomAD v4:
18-53386138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.53386138G>A , CM000680.2:g.53386138G>A | GRCh38 |
| NC_000018.9:g.50912508G>A , CM000680.1:g.50912508G>A | GRCh37 |
| NC_000018.8:g.49166506G>A | NCBI36 |
| NG_013341.1:g.1050967G>A | |
| NG_013341.2:g.1050967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.2455G>A MANE Select | ENSP00000389140.2:p.Asp819Asn | |
| ENST00000304775.12:c.2256G>A | ||
| ENST00000412726.5:c.2386G>A | ENSP00000397322.2:p.Asp796Asn | |
| ENST00000442544.6:c.2455G>A | ENSP00000389140.2:p.Asp819Asn | |
| ENST00000581580.5:c.1420G>A | ENSP00000464582.1:p.Asp474Asn | |
| NM_005215.3:c.2455G>A | NP_005206.2:p.Asp819Asn | |
| XM_011525843.1:c.2455G>A | XP_011524145.1:p.Asp819Asn | |
| XM_011525844.1:c.1420G>A | XP_011524146.1:p.Asp474Asn | |
| XM_011525845.1:c.2455G>A | XP_011524147.1:p.Asp819Asn | |
| XM_011525846.1:c.2455G>A | XP_011524148.1:p.Asp819Asn | |
| XM_011525844.2:c.1420G>A | XP_011524146.1:p.Asp474Asn | |
| XM_017025568.1:c.2455G>A | XP_016881057.1:p.Asp819Asn | |
| XM_017025569.1:c.2455G>A | XP_016881058.1:p.Asp819Asn | |
| XM_017025570.1:c.1420G>A | XP_016881059.1:p.Asp474Asn | |
| NM_005215.4:c.2455G>A MANE Select | NP_005206.2:p.Asp819Asn |