Linked Data
ClinVar Variation Id:
676910
ClinVar RCV Id:
RCV000836380
dbSNP Id:
rs112753528
gnomAD v2:
10-43601738-A-G
gnomAD v3:
10-43106290-A-G
gnomAD v4:
10-43106290-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106290A>G , CM000672.2:g.43106290A>G | GRCh38 |
| NC_000010.10:g.43601738A>G , CM000672.1:g.43601738A>G | GRCh37 |
| NC_000010.9:g.42921744A>G | NCBI36 |
| NG_007489.1:g.34222A>G , LRG_518:g.34222A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.867+1097A>G | ENSP00000480088.2:n.867+1097A>G | |
| ENST00000683007.1:n.442-86A>G | ||
| ENST00000340058.6:c.868-86A>G | ENSP00000344798.4:n.868-86A>G | |
| ENST00000355710.8:c.868-86A>G MANE Select | ENSP00000347942.3:n.868-86A>G | |
| ENST00000671844.1:c.625+3661A>G | ENSP00000500541.1:n.625+3661A>G | |
| ENST00000672389.1:c.74-4917A>G | ENSP00000500252.1:n.74-4917A>G | |
| ENST00000340058.5:c.868-86A>G | ENSP00000344798.4:n.868-86A>G | |
| ENST00000355710.7:c.868-86A>G | ENSP00000347942.3:n.868-86A>G | |
| ENST00000479913.1:n.463-86A>G | ||
| ENST00000498820.5:c.74-5809A>G | ENSP00000419080.1:n.74-5809A>G | |
| ENST00000615310.4:c.868-86A>G | ENSP00000480088.1:n.868-86A>G | |
| NM_020630.4:c.868-86A>G , LRG_518t2:c.868-86A>G | NP_065681.1:n.868-86A>G | |
| NM_020975.4:c.868-86A>G , LRG_518t1:c.868-86A>G | NP_066124.1:n.868-86A>G | |
| XM_011540027.1:c.868-86A>G | XP_011538329.1:n.868-86A>G | |
| NM_001355216.1:c.106-86A>G | NP_001342145.1:n.106-86A>G | |
| NM_020630.5:c.868-86A>G | NP_065681.1:n.868-86A>G | |
| NM_020975.5:c.868-86A>G | NP_066124.1:n.868-86A>G | |
| NM_020975.6:c.868-86A>G MANE Select | NP_066124.1:n.868-86A>G | |
| NM_020630.6:c.868-86A>G | NP_065681.1:n.868-86A>G |