Linked Data
ClinVar Variation Id:
136103
ClinVar RCV Id:
RCV000163453
RCV000455280
RCV000727068
RCV001104479
RCV001107242
RCV001107243
RCV001104478
RCV004542931
RCV001081705
RCV002272134
RCV003153409
dbSNP Id:
rs147219360
ExAC:
10:43608351 G / A
gnomAD v2:
10-43608351-G-A
gnomAD v3:
10-43112903-G-A
gnomAD v4:
10-43112903-G-A
PubMed:
PMID:21490379
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43112903G>A , CM000672.2:g.43112903G>A | GRCh38 |
| NC_000010.10:g.43608351G>A , CM000672.1:g.43608351G>A | GRCh37 |
| NC_000010.9:g.42928357G>A | NCBI36 |
| NG_007489.1:g.40835G>A , LRG_518:g.40835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1303G>A | ENSP00000480088.2:p.Asp435Asn | |
| ENST00000683007.1:n.1273G>A | ||
| ENST00000683872.1:n.460G>A | ||
| ENST00000340058.6:c.1699G>A | ENSP00000344798.4:p.Asp567Asn | |
| ENST00000355710.8:c.1699G>A MANE Select | ENSP00000347942.3:p.Asp567Asn | |
| ENST00000671844.1:c.*293G>A | ENSP00000500541.1:n.*293G>A | |
| ENST00000672389.1:c.*293G>A | ENSP00000500252.1:n.*293G>A | |
| ENST00000340058.5:c.1699G>A | ENSP00000344798.4:p.Asp567Asn | |
| ENST00000355710.7:c.1699G>A | ENSP00000347942.3:p.Asp567Asn | |
| ENST00000498820.5:c.250G>A | ENSP00000419080.1:p.Asp84Asn | |
| ENST00000615310.4:c.1289+1671G>A | ENSP00000480088.1:n.1289+1671G>A | |
| NM_020630.4:c.1699G>A , LRG_518t2:c.1699G>A | NP_065681.1:p.Asp567Asn | |
| NM_020975.4:c.1699G>A , LRG_518t1:c.1699G>A | NP_066124.1:p.Asp567Asn | |
| XM_011540027.1:c.1699G>A | XP_011538329.1:p.Asp567Asn | |
| NM_001355216.1:c.937G>A | NP_001342145.1:p.Asp313Asn | |
| NM_020630.5:c.1699G>A | NP_065681.1:p.Asp567Asn | |
| NM_020975.5:c.1699G>A | NP_066124.1:p.Asp567Asn | |
| NM_020975.6:c.1699G>A MANE Select | NP_066124.1:p.Asp567Asn | |
| NM_020630.6:c.1699G>A | NP_065681.1:p.Asp567Asn |