Linked Data
ClinVar Variation Id:
518364
ClinVar RCV Id:
RCV001637101
dbSNP Id:
rs702689
ExAC:
5:56177443 G / A
gnomAD v2:
5-56177443-G-A
gnomAD v3:
5-56881616-G-A
gnomAD v4:
5-56881616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56881616G>A , CM000667.2:g.56881616G>A | GRCh38 |
| NC_000005.9:g.56177443G>A , CM000667.1:g.56177443G>A | GRCh37 |
| NC_000005.8:g.56213200G>A | NCBI36 |
| NG_031884.1:g.71544G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399503.4:c.2416G>A MANE Select | ENSP00000382423.3:p.Asp806Asn | |
| ENST00000399503.3:c.2416G>A | ENSP00000382423.3:p.Asp806Asn | |
| NM_005921.1:c.2416G>A | NP_005912.1:p.Asp806Asn | |
| XM_005248519.3:c.2038G>A | XP_005248576.2:p.Asp680Asn | |
| XM_011543406.1:c.2161G>A | XP_011541708.1:p.Asp721Asn | |
| XM_011543407.1:c.2137G>A | XP_011541709.1:p.Asp713Asn | |
| XM_011543408.1:c.2416G>A | XP_011541710.1:p.Asp806Asn | |
| XM_017009484.1:c.2005G>A | XP_016864973.1:p.Asp669Asn | |
| XM_017009485.1:c.1927G>A | XP_016864974.1:p.Asp643Asn | |
| XR_001742068.2:n.2447G>A | ||
| NM_005921.2:c.2416G>A MANE Select | NP_005912.1:p.Asp806Asn |