Linked Data
ClinVar Variation Id:
245639
dbSNP Id:
rs374926367
ExAC:
1:156108880 A / G
gnomAD v2:
1-156108880-A-G
gnomAD v3:
1-156139089-A-G
gnomAD v4:
1-156139089-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156139089A>G , CM000663.2:g.156139089A>G | GRCh38 |
| NC_000001.10:g.156108880A>G , CM000663.1:g.156108880A>G | GRCh37 |
| NC_000001.9:g.154375504A>G | NCBI36 |
| NG_008692.2:g.61517A>G , LRG_254:g.61517A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504687.7:c.1420A>G | ENSP00000426535.3:p.Asn474Asp | |
| ENST00000682650.1:c.1888A>G | ENSP00000506904.1:p.Asn630Asp | |
| ENST00000683032.1:c.1978A>G | ENSP00000506771.1:p.Asn660Asp | |
| ENST00000683773.1:n.163+482A>G | ||
| ENST00000684195.1:c.*1070A>G | ENSP00000508220.1:n.*1070A>G | |
| ENST00000361308.9:c.1978A>G | ENSP00000355292.6:p.Asn660Asp | |
| ENST00000368300.9:c.1978A>G MANE Select | ENSP00000357283.4:p.Asn660Asp | |
| ENST00000674518.1:c.*1328A>G | ENSP00000502261.1:n.*1328A>G | |
| ENST00000674600.1:c.*1777A>G | ENSP00000501666.1:n.*1777A>G | |
| ENST00000675455.1:c.*1778A>G | ENSP00000501795.1:n.*1778A>G | |
| ENST00000675667.1:c.*110A>G | ENSP00000501803.1:n.*110A>G | |
| ENST00000675874.1:c.*1449A>G | ENSP00000501851.1:n.*1449A>G | |
| ENST00000675881.1:c.*989A>G | ENSP00000501670.1:n.*989A>G | |
| ENST00000675939.1:c.1978A>G | ENSP00000502256.1:p.Asn660Asp | |
| ENST00000675989.1:n.3581A>G | ||
| ENST00000676208.1:c.*1081A>G | ENSP00000502468.1:n.*1081A>G | |
| ENST00000676385.2:c.1888A>G | ENSP00000502091.1:p.Asn630Asp | |
| ENST00000347559.6:c.1888A>G | ENSP00000292304.3:p.Asn630Asp | |
| ENST00000368299.7:c.1828A>G | ENSP00000357282.3:p.Asn610Asp | |
| ENST00000368300.8:c.1978A>G | ENSP00000357283.4:p.Asn660Asp | |
| ENST00000448611.6:c.1642A>G | ENSP00000395597.2:p.Asn548Asp | |
| ENST00000473598.6:c.1681A>G | ENSP00000421821.1:p.Asn561Asp | |
| ENST00000496738.5:n.2191A>G | ||
| ENST00000506981.1:n.562A>G | ||
| ENST00000508500.1:c.766A>G | ENSP00000424977.1:p.Asn256Asp | |
| NM_001257374.2:c.1642A>G | NP_001244303.1:p.Asn548Asp | |
| NM_001282626.1:c.1828A>G | NP_001269555.1:p.Asn610Asp | |
| NM_170707.3:c.1978A>G | NP_733821.1:p.Asn660Asp | |
| NM_170708.3:c.1888A>G | NP_733822.1:p.Asn630Asp | |
| XM_011509533.1:c.1642A>G | XP_011507835.1:p.Asn548Asp | |
| XM_011509534.1:c.1354A>G | XP_011507836.1:p.Asn452Asp | |
| XR_921781.1:n.2267A>G | ||
| XM_011509534.2:c.1354A>G | XP_011507836.1:p.Asn452Asp | |
| XR_921781.2:n.2265A>G | ||
| NM_170707.4:c.1978A>G MANE Select | NP_733821.1:p.Asn660Asp | |
| NM_001257374.3:c.1642A>G | NP_001244303.1:p.Asn548Asp | |
| NM_001282626.2:c.1828A>G | NP_001269555.1:p.Asn610Asp | |
| NM_170708.4:c.1888A>G | NP_733822.1:p.Asn630Asp |