Linked Data
ClinVar Variation Id:
41843
ClinVar RCV Id:
RCV000034775
RCV000411986
RCV000458385
RCV000409131
RCV000568654
RCV001104859
RCV001104860
RCV001104857
RCV001104858
RCV002477061
dbSNP Id:
rs199718928
ExAC:
10:43620373 A / C
gnomAD v2:
10-43620373-A-C
gnomAD v3:
10-43124925-A-C
gnomAD v4:
10-43124925-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43124925A>C , CM000672.2:g.43124925A>C | GRCh38 |
| NC_000010.10:g.43620373A>C , CM000672.1:g.43620373A>C | GRCh37 |
| NC_000010.9:g.42940379A>C | NCBI36 |
| NG_007489.1:g.52857A>C , LRG_518:g.52857A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2586A>C | ENSP00000480088.2:p.Lys862Asn | |
| ENST00000683007.1:n.2556A>C | ||
| ENST00000340058.6:c.2982A>C | ENSP00000344798.4:p.Lys994Asn | |
| ENST00000355710.8:c.2982A>C MANE Select | ENSP00000347942.3:p.Lys994Asn | |
| ENST00000671844.1:c.*1576A>C | ENSP00000500541.1:n.*1576A>C | |
| ENST00000672389.1:c.*1576A>C | ENSP00000500252.1:n.*1576A>C | |
| ENST00000340058.5:c.2982A>C | ENSP00000344798.4:p.Lys994Asn | |
| ENST00000355710.7:c.2982A>C | ENSP00000347942.3:p.Lys994Asn | |
| ENST00000615310.4:c.*331A>C | ENSP00000480088.1:n.*331A>C | |
| NM_020630.4:c.2982A>C , LRG_518t2:c.2982A>C | NP_065681.1:p.Lys994Asn | |
| NM_020975.4:c.2982A>C , LRG_518t1:c.2982A>C | NP_066124.1:p.Lys994Asn | |
| XM_011540027.1:c.2982A>C | XP_011538329.1:p.Lys994Asn | |
| NM_001355216.1:c.2220A>C | NP_001342145.1:p.Lys740Asn | |
| NM_020630.5:c.2982A>C | NP_065681.1:p.Lys994Asn | |
| NM_020975.5:c.2982A>C | NP_066124.1:p.Lys994Asn | |
| NM_020975.6:c.2982A>C MANE Select | NP_066124.1:p.Lys994Asn | |
| NM_020630.6:c.2982A>C | NP_065681.1:p.Lys994Asn |