Linked Data
ClinVar Variation Id:
241355
dbSNP Id:
rs763489828
ExAC:
10:43620396 G / A
gnomAD v2:
10-43620396-G-A
gnomAD v3:
10-43124948-G-A
gnomAD v4:
10-43124948-G-A
COSMIC:
COSM327231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43124948G>A , CM000672.2:g.43124948G>A | GRCh38 |
| NC_000010.10:g.43620396G>A , CM000672.1:g.43620396G>A | GRCh37 |
| NC_000010.9:g.42940402G>A | NCBI36 |
| NG_007489.1:g.52880G>A , LRG_518:g.52880G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2609G>A | ENSP00000480088.2:p.Ser870Asn | |
| ENST00000683007.1:n.2579G>A | ||
| ENST00000340058.6:c.3005G>A | ENSP00000344798.4:p.Ser1002Asn | |
| ENST00000355710.8:c.3005G>A MANE Select | ENSP00000347942.3:p.Ser1002Asn | |
| ENST00000671844.1:c.*1599G>A | ENSP00000500541.1:n.*1599G>A | |
| ENST00000672389.1:c.*1599G>A | ENSP00000500252.1:n.*1599G>A | |
| ENST00000340058.5:c.3005G>A | ENSP00000344798.4:p.Ser1002Asn | |
| ENST00000355710.7:c.3005G>A | ENSP00000347942.3:p.Ser1002Asn | |
| ENST00000615310.4:c.*354G>A | ENSP00000480088.1:n.*354G>A | |
| NM_020630.4:c.3005G>A , LRG_518t2:c.3005G>A | NP_065681.1:p.Ser1002Asn | |
| NM_020975.4:c.3005G>A , LRG_518t1:c.3005G>A | NP_066124.1:p.Ser1002Asn | |
| XM_011540027.1:c.3005G>A | XP_011538329.1:p.Ser1002Asn | |
| NM_001355216.1:c.2243G>A | NP_001342145.1:p.Ser748Asn | |
| NM_020630.5:c.3005G>A | NP_065681.1:p.Ser1002Asn | |
| NM_020975.5:c.3005G>A | NP_066124.1:p.Ser1002Asn | |
| NM_020975.6:c.3005G>A MANE Select | NP_066124.1:p.Ser1002Asn | |
| NM_020630.6:c.3005G>A | NP_065681.1:p.Ser1002Asn |