Linked Data
ClinVar Variation Id:
178655
ClinVar RCV Id:
RCV000155412
RCV000284874
RCV000376917
RCV000664098
RCV000871130
RCV002492587
RCV002464132
dbSNP Id:
rs3821945
ExAC:
4:6304118 G / A
gnomAD v2:
4-6304118-G-A
gnomAD v3:
4-6302391-G-A
gnomAD v4:
4-6302391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302391G>A , CM000666.2:g.6302391G>A | GRCh38 |
| NC_000004.11:g.6304118G>A , CM000666.1:g.6304118G>A | GRCh37 |
| NC_000004.10:g.6355019G>A | NCBI36 |
| NG_011700.1:g.37542G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2632G>A | ENSP00000507852.1:p.Asp878Asn | |
| ENST00000683395.1:c.2573G>A | ||
| ENST00000684087.1:c.2596G>A | ENSP00000506978.1:p.Asp866Asn | |
| ENST00000506362.2:c.2347G>A | ENSP00000424103.2:p.Asp783Asn | |
| ENST00000673991.1:c.2632G>A | ENSP00000501033.1:p.Asp878Asn | |
| ENST00000226760.5:c.2596G>A MANE Select | ENSP00000226760.1:p.Asp866Asn | |
| ENST00000503569.5:c.2596G>A | ENSP00000423337.1:p.Asp866Asn | |
| ENST00000507765.1:n.2781G>A | ||
| NM_001145853.1:c.2596G>A | NP_001139325.1:p.Asp866Asn | |
| NM_006005.3:c.2596G>A MANE Select | NP_005996.2:p.Asp866Asn | |
| XM_017008586.1:c.2605G>A | XP_016864075.1:p.Asp869Asn |