Linked Data
ClinVar Variation Id:
2792788
ClinVar RCV Id:
RCV003646091
dbSNP Id:
rs1282018603
gnomAD v2:
10-43613945-G-C
gnomAD v4:
10-43118497-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43118497G>C , CM000672.2:g.43118497G>C | GRCh38 |
| NC_000010.10:g.43613945G>C , CM000672.1:g.43613945G>C | GRCh37 |
| NC_000010.9:g.42933951G>C | NCBI36 |
| NG_007489.1:g.46429G>C , LRG_518:g.46429G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1996+17G>C | ENSP00000480088.2:n.1996+17G>C | |
| ENST00000683007.1:n.1966+17G>C | ||
| ENST00000683872.1:n.1957+17G>C | ||
| ENST00000340058.6:c.2392+17G>C | ENSP00000344798.4:n.2392+17G>C | |
| ENST00000355710.8:c.2392+17G>C MANE Select | ENSP00000347942.3:n.2392+17G>C | |
| ENST00000671844.1:c.*986+17G>C | ENSP00000500541.1:n.*986+17G>C | |
| ENST00000672389.1:c.*986+17G>C | ENSP00000500252.1:n.*986+17G>C | |
| ENST00000340058.5:c.2392+17G>C | ENSP00000344798.4:n.2392+17G>C | |
| ENST00000355710.7:c.2392+17G>C | ENSP00000347942.3:n.2392+17G>C | |
| ENST00000615310.4:c.1290-1205G>C | ENSP00000480088.1:n.1290-1205G>C | |
| NM_020630.4:c.2392+17G>C , LRG_518t2:c.2392+17G>C | NP_065681.1:n.2392+17G>C | |
| NM_020975.4:c.2392+17G>C , LRG_518t1:c.2392+17G>C | NP_066124.1:n.2392+17G>C | |
| XM_011540027.1:c.2392+17G>C | XP_011538329.1:n.2392+17G>C | |
| NM_001355216.1:c.1630+17G>C | NP_001342145.1:n.1630+17G>C | |
| NM_020630.5:c.2392+17G>C | NP_065681.1:n.2392+17G>C | |
| NM_020975.5:c.2392+17G>C | NP_066124.1:n.2392+17G>C | |
| NM_020975.6:c.2392+17G>C MANE Select | NP_066124.1:n.2392+17G>C | |
| NM_020630.6:c.2392+17G>C | NP_065681.1:n.2392+17G>C |