Linked Data
ClinVar Variation Id:
409828
dbSNP Id:
rs1060502583
gnomAD v2:
2-203417534-A-C
gnomAD v4:
2-202552811-A-C
ERepo:
CA16610570/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202552811A>C , CM000664.2:g.202552811A>C | GRCh38 |
| NC_000002.11:g.203417534A>C , CM000664.1:g.203417534A>C | GRCh37 |
| NC_000002.10:g.203125779A>C | NCBI36 |
| NG_009363.1:g.181485A>C , LRG_712:g.181485A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1509A>C MANE Select | ENSP00000363708.4:p.Glu503Asp | |
| ENST00000638587.1:c.1440A>C | ENSP00000491062.1:p.Glu480Asp | |
| ENST00000374574.2:c.1509A>C | ENSP00000363702.2:p.Glu503Asp | |
| ENST00000374580.8:c.1509A>C | ENSP00000363708.4:p.Glu503Asp | |
| NM_001204.6:c.1509A>C , LRG_712t1:c.1509A>C | NP_001195.2:p.Glu503Asp | |
| XM_011511687.1:c.1509A>C | XP_011509989.1:p.Glu503Asp | |
| XM_011511688.1:c.1509A>C | XP_011509990.1:p.Glu503Asp | |
| NM_001204.7:c.1509A>C MANE Select | NP_001195.2:p.Glu503Asp |