Linked Data
ClinVar Variation Id:
135178
ClinVar RCV Id:
RCV000121980
RCV000410090
RCV000412123
RCV000724767
RCV000540063
RCV000561957
RCV003460859
RCV004530033
dbSNP Id:
rs587778656
ExAC:
10:43613884 A / C
gnomAD v2:
10-43613884-A-C
gnomAD v3:
10-43118436-A-C
gnomAD v4:
10-43118436-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43118436A>C , CM000672.2:g.43118436A>C | GRCh38 |
| NC_000010.10:g.43613884A>C , CM000672.1:g.43613884A>C | GRCh37 |
| NC_000010.9:g.42933890A>C | NCBI36 |
| NG_007489.1:g.46368A>C , LRG_518:g.46368A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1952A>C | ENSP00000480088.2:p.Asn651Thr | |
| ENST00000683007.1:n.1922A>C | ||
| ENST00000683872.1:n.1913A>C | ||
| ENST00000340058.6:c.2348A>C | ENSP00000344798.4:p.Asn783Thr | |
| ENST00000355710.8:c.2348A>C MANE Select | ENSP00000347942.3:p.Asn783Thr | |
| ENST00000671844.1:c.*942A>C | ENSP00000500541.1:n.*942A>C | |
| ENST00000672389.1:c.*942A>C | ENSP00000500252.1:n.*942A>C | |
| ENST00000340058.5:c.2348A>C | ENSP00000344798.4:p.Asn783Thr | |
| ENST00000355710.7:c.2348A>C | ENSP00000347942.3:p.Asn783Thr | |
| ENST00000615310.4:c.1290-1266A>C | ENSP00000480088.1:n.1290-1266A>C | |
| NM_020630.4:c.2348A>C , LRG_518t2:c.2348A>C | NP_065681.1:p.Asn783Thr | |
| NM_020975.4:c.2348A>C , LRG_518t1:c.2348A>C | NP_066124.1:p.Asn783Thr | |
| XM_011540027.1:c.2348A>C | XP_011538329.1:p.Asn783Thr | |
| NM_001355216.1:c.1586A>C | NP_001342145.1:p.Asn529Thr | |
| NM_020630.5:c.2348A>C | NP_065681.1:p.Asn783Thr | |
| NM_020975.5:c.2348A>C | NP_066124.1:p.Asn783Thr | |
| NM_020975.6:c.2348A>C MANE Select | NP_066124.1:p.Asn783Thr | |
| NM_020630.6:c.2348A>C | NP_065681.1:p.Asn783Thr |