Linked Data
ClinVar Variation Id:
2493026
ClinVar RCV Id:
RCV004280742
dbSNP Id:
rs1352655534
gnomAD v2:
1-17662671-G-A
gnomAD v3:
1-17336176-G-A
gnomAD v4:
1-17336176-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17336176G>A , CM000663.2:g.17336176G>A | GRCh38 |
| NC_000001.10:g.17662671G>A , CM000663.1:g.17662671G>A | GRCh37 |
| NC_000001.9:g.17535258G>A | NCBI36 |
| NG_023261.2:g.32987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.358G>A MANE Select | ENSP00000364597.4:p.Asp120Asn | |
| NM_012387.2:c.358G>A | NP_036519.2:p.Asp120Asn | |
| XM_011541150.1:c.340+2167G>A | XP_011539452.1:n.340+2167G>A | |
| XM_011541151.1:c.358G>A | XP_011539453.1:p.Asp120Asn | |
| XM_011541152.1:c.-62G>A | XP_011539454.1:n.-62G>A | |
| XM_011541153.1:c.358G>A | XP_011539455.1:p.Asp120Asn | |
| XM_011541154.1:c.358G>A | XP_011539456.1:p.Asp120Asn | |
| XM_011541155.1:c.358G>A | XP_011539457.1:p.Asp120Asn | |
| XM_011541156.1:c.358G>A | XP_011539458.1:p.Asp120Asn | |
| XM_011541157.1:c.-355G>A | XP_011539459.1:n.-355G>A | |
| XM_011541154.2:c.358G>A | XP_011539456.1:p.Asp120Asn | |
| NM_012387.3:c.358G>A MANE Select | NP_036519.2:p.Asp120Asn |