Linked Data
ClinVar Variation Id:
1313979
ClinVar RCV Id:
RCV001771210
dbSNP Id:
rs750991056
ExAC:
1:12025621 G / A
gnomAD v2:
1-12025621-G-A
gnomAD v3:
1-11965564-G-A
gnomAD v4:
1-11965564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965564G>A , CM000663.2:g.11965564G>A | GRCh38 |
| NC_000001.10:g.12025621G>A , CM000663.1:g.12025621G>A | GRCh37 |
| NC_000001.9:g.11948208G>A | NCBI36 |
| NG_008159.1:g.35876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1555G>A MANE Select | ENSP00000196061.4:p.Asp519Asn | |
| ENST00000196061.4:c.1555G>A | ENSP00000196061.4:p.Asp519Asn | |
| ENST00000470133.1:n.169G>A | ||
| ENST00000491536.5:n.183G>A | ||
| NM_000302.3:c.1555G>A | NP_000293.2:p.Asp519Asn | |
| NM_001316320.1:c.1696G>A | NP_001303249.1:p.Asp566Asn | |
| XM_011541594.1:c.1636G>A | XP_011539896.1:p.Asp546Asn | |
| XM_024447707.1:c.889G>A | XP_024303475.1:p.Asp297Asn | |
| NM_000302.4:c.1555G>A MANE Select | NP_000293.2:p.Asp519Asn | |
| NM_001316320.2:c.1696G>A | NP_001303249.1:p.Asp566Asn |