Linked Data
ClinVar Variation Id:
427862
ClinVar RCV Id:
RCV000515659
dbSNP Id:
rs768028061
ExAC:
14:88903941 G / T
gnomAD v2:
14-88903941-G-T
gnomAD v4:
14-88437597-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88437597G>T , CM000676.2:g.88437597G>T | GRCh38 |
| NC_000014.8:g.88903941G>T , CM000676.1:g.88903941G>T | GRCh37 |
| NC_000014.7:g.87973694G>T | NCBI36 |
| NG_021183.1:g.56954G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1215G>T MANE Select | ENSP00000377176.4:p.Glu405Asp | |
| ENST00000045347.11:c.1215G>T | ENSP00000045347.7:p.Glu405Asp | |
| ENST00000356583.9:c.1119G>T | ENSP00000348991.5:p.Glu373Asp | |
| ENST00000393545.8:c.1215G>T | ENSP00000377176.4:p.Glu405Asp | |
| ENST00000553303.1:n.645G>T | ||
| ENST00000553626.5:n.2994G>T | ||
| ENST00000554802.1:c.111G>T | ENSP00000451019.1:p.Glu37Asp | |
| ENST00000556406.5:c.188G>T | ||
| ENST00000556553.5:c.1119G>T | ENSP00000451128.1:p.Glu373Asp | |
| ENST00000556666.5:n.1762G>T | ||
| NM_001040428.3:c.1119G>T | NP_001035518.1:p.Glu373Asp | |
| NM_018418.4:c.1215G>T | NP_060888.2:p.Glu405Asp | |
| XM_005267851.1:c.1218G>T | XP_005267908.1:p.Glu406Asp | |
| XM_005267852.1:c.1122G>T | XP_005267909.1:p.Glu374Asp | |
| XM_005267854.1:c.1026G>T | XP_005267911.1:p.Glu342Asp | |
| XM_005267855.1:c.1026G>T | XP_005267912.1:p.Glu342Asp | |
| XM_006720204.1:c.1218G>T | XP_006720267.1:p.Glu406Asp | |
| XM_006720205.1:c.1218G>T | XP_006720268.1:p.Glu406Asp | |
| XM_011536951.1:c.1065G>T | XP_011535253.1:p.Glu355Asp | |
| XM_011536952.1:c.1047G>T | XP_011535254.1:p.Glu349Asp | |
| XM_011536953.1:c.900G>T | XP_011535255.1:p.Glu300Asp | |
| XM_005267852.2:c.1122G>T | XP_005267909.1:p.Glu374Asp | |
| XM_017021452.1:c.1062G>T | XP_016876941.1:p.Glu354Asp | |
| XM_017021453.1:c.1026G>T | XP_016876942.1:p.Glu342Asp | |
| XM_017021454.1:c.1023G>T | XP_016876943.1:p.Glu341Asp | |
| XM_017021455.1:c.1023G>T | XP_016876944.1:p.Glu341Asp | |
| XM_017021456.1:c.1023G>T | XP_016876945.1:p.Glu341Asp | |
| XM_017021457.1:c.897G>T | XP_016876946.1:p.Glu299Asp | |
| XM_024449660.1:c.1044G>T | XP_024305428.1:p.Glu348Asp | |
| XR_002957563.1:n.1396G>T | ||
| NM_018418.5:c.1215G>T MANE Select | NP_060888.2:p.Glu405Asp | |
| NM_001040428.4:c.1119G>T | NP_001035518.1:p.Glu373Asp |