Linked Data
ClinVar Variation Id:
2299524
ClinVar RCV Id:
RCV004153850
dbSNP Id:
rs376863416
ExAC:
7:44801412 G / A
gnomAD v2:
7-44801412-G-A
gnomAD v3:
7-44761813-G-A
gnomAD v4:
7-44761813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44761813G>A , CM000669.2:g.44761813G>A | GRCh38 |
| NC_000007.13:g.44801412G>A , CM000669.1:g.44801412G>A | GRCh37 |
| NC_000007.12:g.44767937G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309315.9:c.1504G>A MANE Select | ENSP00000311778.4:p.Asp502Asn | |
| ENST00000265346.11:c.1426G>A | ENSP00000265346.7:p.Asp476Asn | |
| ENST00000309315.8:c.1504G>A | ENSP00000311778.4:p.Asp502Asn | |
| ENST00000413916.5:c.1330G>A | ENSP00000409648.1:p.Asp444Asn | |
| ENST00000433667.5:c.1408G>A | ENSP00000396601.1:p.Asp470Asn | |
| ENST00000441627.5:c.1504G>A | ENSP00000414723.1:p.Asp502Asn | |
| ENST00000463056.5:n.907G>A | ||
| ENST00000478045.5:n.1225G>A | ||
| ENST00000480964.5:n.6G>A | ||
| ENST00000615423.1:c.1504G>A | ENSP00000483853.1:p.Asp502Asn | |
| NM_001300959.1:c.1330G>A | NP_001287888.1:p.Asp444Asn | |
| NM_031449.3:c.1504G>A | NP_113637.3:p.Asp502Asn | |
| NM_174929.2:c.1426G>A | NP_777589.2:p.Asp476Asn | |
| XM_005249866.2:c.1531G>A | XP_005249923.1:p.Asp511Asn | |
| XM_005249867.3:c.1531G>A | XP_005249924.1:p.Asp511Asn | |
| XM_005249868.3:c.1531G>A | XP_005249925.1:p.Asp511Asn | |
| XM_005249869.2:c.1504G>A | XP_005249926.1:p.Asp502Asn | |
| XM_005249870.2:c.1453G>A | XP_005249927.1:p.Asp485Asn | |
| XM_005249871.2:c.1435G>A | XP_005249928.1:p.Asp479Asn | |
| XM_005249872.2:c.1426G>A | XP_005249929.1:p.Asp476Asn | |
| XM_005249873.2:c.1408G>A | XP_005249930.1:p.Asp470Asn | |
| XM_006715787.2:c.1531G>A | XP_006715850.1:p.Asp511Asn | |
| XM_011515565.1:c.1531G>A | XP_011513867.1:p.Asp511Asn | |
| XM_011515566.1:c.709G>A | XP_011513868.1:p.Asp237Asn | |
| XR_926948.1:n.1678G>A | ||
| XR_926949.1:n.1678G>A | ||
| XR_926950.1:n.1678G>A | ||
| XM_005249867.5:c.1531G>A | XP_005249924.1:p.Asp511Asn | |
| XM_005249868.4:c.1531G>A | XP_005249925.1:p.Asp511Asn | |
| XM_017012674.1:c.1531G>A | XP_016868163.1:p.Asp511Asn | |
| NM_031449.4:c.1504G>A MANE Select | NP_113637.3:p.Asp502Asn | |
| NM_001300959.2:c.1330G>A | NP_001287888.1:p.Asp444Asn |