Linked Data
ClinVar Variation Id:
393444
dbSNP Id:
rs145902391
ExAC:
20:43052675 G / A
gnomAD v2:
20-43052675-G-A
gnomAD v3:
20-44424035-G-A
gnomAD v4:
20-44424035-G-A
ERepo:
CA9870393/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44424035G>A , CM000682.2:g.44424035G>A | GRCh38 |
| NC_000020.10:g.43052675G>A , CM000682.1:g.43052675G>A | GRCh37 |
| NC_000020.9:g.42486089G>A | NCBI36 |
| NG_009818.1:g.73235G>A , LRG_483:g.73235G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.844G>A MANE Select | ENSP00000315180.4:p.Asp282Asn | |
| ENST00000316099.10:c.910G>A | ENSP00000312987.3:p.Asp304Asn | |
| ENST00000619550.5:c.884G>A | ||
| ENST00000316099.9:c.910G>A | ENSP00000312987.3:p.Asp304Asn | |
| ENST00000316099.8:c.910G>A | ENSP00000312987.3:p.Asp304Asn | |
| ENST00000316673.8:c.844G>A | ENSP00000315180.4:p.Asp282Asn | |
| ENST00000372920.1:c.*677G>A | ENSP00000362011.1:n.*677G>A | |
| ENST00000415691.2:c.910G>A | ENSP00000412111.1:p.Asp304Asn | |
| ENST00000443598.6:c.910G>A | ENSP00000410911.2:p.Asp304Asn | |
| ENST00000457232.5:c.844G>A | ENSP00000396216.1:p.Asp282Asn | |
| ENST00000609795.5:c.844G>A | ENSP00000476609.1:p.Asp282Asn | |
| ENST00000619550.4:c.835G>A | ENSP00000481331.1:p.Asp279Asn | |
| NM_000457.4:c.910G>A , LRG_483t2:c.910G>A | NP_000448.3:p.Asp304Asn | |
| NM_001030003.2:c.844G>A | NP_001025174.1:p.Asp282Asn | |
| NM_001030004.2:c.844G>A | NP_001025175.1:p.Asp282Asn | |
| NM_001258355.1:c.889G>A | NP_001245284.1:p.Asp297Asn | |
| NM_001287182.1:c.835G>A | NP_001274111.1:p.Asp279Asn | |
| NM_001287183.1:c.835G>A , LRG_483t3:c.835G>A | NP_001274112.1:p.Asp279Asn | |
| NM_001287184.1:c.835G>A | NP_001274113.1:p.Asp279Asn | |
| NM_175914.4:c.844G>A , LRG_483t1:c.844G>A | NP_787110.2:p.Asp282Asn | |
| NM_178849.2:c.910G>A | NP_849180.1:p.Asp304Asn | |
| NM_178850.2:c.910G>A | NP_849181.1:p.Asp304Asn | |
| XM_005260407.2:c.1027G>A | XP_005260464.1:p.Asp343Asn | |
| XM_011528797.1:c.958G>A | XP_011527099.1:p.Asp320Asn | |
| XM_011528798.1:c.958G>A | XP_011527100.1:p.Asp320Asn | |
| XM_005260407.4:c.1027G>A | XP_005260464.1:p.Asp343Asn | |
| NM_001030003.3:c.844G>A | NP_001025174.1:p.Asp282Asn | |
| NM_001030004.3:c.844G>A | NP_001025175.1:p.Asp282Asn | |
| NM_001258355.2:c.889G>A | NP_001245284.1:p.Asp297Asn | |
| NM_001287182.2:c.835G>A | NP_001274111.1:p.Asp279Asn | |
| NM_001287184.2:c.835G>A | NP_001274113.1:p.Asp279Asn | |
| NM_178849.3:c.910G>A | NP_849180.1:p.Asp304Asn | |
| NM_178850.3:c.910G>A | NP_849181.1:p.Asp304Asn | |
| NM_000457.5:c.910G>A | NP_000448.3:p.Asp304Asn | |
| NM_000457.6:c.910G>A | NP_000448.3:p.Asp304Asn | |
| NM_001287183.2:c.835G>A | NP_001274112.1:p.Asp279Asn | |
| NM_175914.5:c.844G>A MANE Select | NP_787110.2:p.Asp282Asn |