Linked Data
ClinVar Variation Id:
484551
dbSNP Id:
rs116162724
ExAC:
12:133252745 C / T
gnomAD v2:
12-133252745-C-T
gnomAD v3:
12-132676159-C-T
gnomAD v4:
12-132676159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132676159C>T , CM000674.2:g.132676159C>T | GRCh38 |
| NC_000012.11:g.133252745C>T , CM000674.1:g.133252745C>T | GRCh37 |
| NC_000012.10:g.131762818C>T | NCBI36 |
| NG_033840.1:g.16366G>A , LRG_789:g.16366G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545015.2:n.982G>A | ||
| ENST00000699982.1:c.801G>A | ||
| ENST00000699983.1:c.801G>A | ||
| ENST00000699984.1:c.801G>A | ||
| ENST00000320574.10:c.955G>A MANE Select | ENSP00000322570.5:p.Asp319Asn | |
| ENST00000672742.1:c.*449G>A | ENSP00000500279.1:n.*449G>A | |
| ENST00000320574.9:c.955G>A | ENSP00000322570.5:p.Asp319Asn | |
| ENST00000535270.5:c.874G>A | ENSP00000445753.1:p.Asp292Asn | |
| ENST00000535934.2:n.340G>A | ||
| ENST00000537064.5:c.*2G>A | ENSP00000442578.1:n.*2G>A | |
| NM_006231.3:c.955G>A , LRG_789t1:c.955G>A | NP_006222.2:p.Asp319Asn | |
| XM_011534795.1:c.955G>A | XP_011533097.1:p.Asp319Asn | |
| XM_011534796.1:c.826G>A | XP_011533098.1:p.Asp276Asn | |
| XM_011534797.1:c.34G>A | XP_011533099.1:p.Asp12Asn | |
| XM_011534799.1:c.955G>A | XP_011533101.1:p.Asp319Asn | |
| XM_011534800.1:c.955G>A | XP_011533102.1:p.Asp319Asn | |
| XM_011534801.1:c.955G>A | XP_011533103.1:p.Asp319Asn | |
| XR_941395.1:n.1164G>A | ||
| XM_011534795.3:c.955G>A | XP_011533097.1:p.Asp319Asn | |
| XM_011534797.3:c.34G>A | XP_011533099.1:p.Asp12Asn | |
| XM_011534799.2:c.955G>A | XP_011533101.1:p.Asp319Asn | |
| XR_002957338.1:n.1159G>A | ||
| XR_002957339.1:n.1159G>A | ||
| XR_941395.2:n.1159G>A | ||
| NM_006231.4:c.955G>A MANE Select | NP_006222.2:p.Asp319Asn |