Linked Data
ClinVar Variation Id:
41846
ClinVar RCV Id:
RCV000034778
RCV000121990
RCV000163444
RCV000490442
RCV001083124
RCV000988341
RCV001104179
RCV001104178
RCV001104180
dbSNP Id:
rs35118262
ExAC:
10:43600607 C / A
gnomAD v2:
10-43600607-C-A
gnomAD v3:
10-43105159-C-A
gnomAD v4:
10-43105159-C-A
COSMIC:
COSM95173
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43105159C>A , CM000672.2:g.43105159C>A | GRCh38 |
| NC_000010.10:g.43600607C>A , CM000672.1:g.43600607C>A | GRCh37 |
| NC_000010.9:g.42920613C>A | NCBI36 |
| NG_007489.1:g.33091C>A , LRG_518:g.33091C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.833C>A | ENSP00000480088.2:p.Thr278Asn | |
| ENST00000683007.1:n.407C>A | ||
| ENST00000340058.6:c.833C>A | ENSP00000344798.4:p.Thr278Asn | |
| ENST00000355710.8:c.833C>A MANE Select | ENSP00000347942.3:p.Thr278Asn | |
| ENST00000671844.1:c.625+2530C>A | ENSP00000500541.1:n.625+2530C>A | |
| ENST00000672389.1:c.74-6048C>A | ENSP00000500252.1:n.74-6048C>A | |
| ENST00000340058.5:c.833C>A | ENSP00000344798.4:p.Thr278Asn | |
| ENST00000355710.7:c.833C>A | ENSP00000347942.3:p.Thr278Asn | |
| ENST00000479913.1:n.428C>A | ||
| ENST00000498820.5:c.74-6940C>A | ENSP00000419080.1:n.74-6940C>A | |
| ENST00000615310.4:c.833C>A | ENSP00000480088.1:p.Thr278Asn | |
| NM_020630.4:c.833C>A , LRG_518t2:c.833C>A | NP_065681.1:p.Thr278Asn | |
| NM_020975.4:c.833C>A , LRG_518t1:c.833C>A | NP_066124.1:p.Thr278Asn | |
| XM_011540027.1:c.833C>A | XP_011538329.1:p.Thr278Asn | |
| NM_001355216.1:c.71C>A | NP_001342145.1:p.Thr24Asn | |
| NM_020630.5:c.833C>A | NP_065681.1:p.Thr278Asn | |
| NM_020975.5:c.833C>A | NP_066124.1:p.Thr278Asn | |
| NM_020975.6:c.833C>A MANE Select | NP_066124.1:p.Thr278Asn | |
| NM_020630.6:c.833C>A | NP_065681.1:p.Thr278Asn |