Linked Data
ClinVar Variation Id:
751942
ClinVar RCV Id:
RCV000929054
dbSNP Id:
rs925891924
gnomAD v2:
10-50668412-A-G
gnomAD v3:
10-49460366-A-G
gnomAD v4:
10-49460366-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49460366A>G , CM000672.2:g.49460366A>G | GRCh38 |
| NC_000010.10:g.50668412A>G , CM000672.1:g.50668412A>G | GRCh37 |
| NC_000010.9:g.50338418A>G | NCBI36 |
| NG_009442.1:g.83736T>C , LRG_465:g.83736T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.4062+7T>C MANE Select | ENSP00000348089.5:n.4062+7T>C | |
| ENST00000679552.1:n.1140T>C | ||
| ENST00000679871.1:n.1208+7T>C | ||
| ENST00000679974.1:n.1111+7T>C | ||
| ENST00000681632.1:n.5465+7T>C | ||
| ENST00000681659.1:c.3903+7T>C | ENSP00000505631.1:n.3903+7T>C | |
| ENST00000355832.9:c.4062+7T>C | ENSP00000348089.5:n.4062+7T>C | |
| ENST00000465653.1:n.391T>C | ||
| ENST00000623073.3:c.*2358+7T>C | ENSP00000485650.1:n.*2358+7T>C | |
| ENST00000623115.3:c.2172+7T>C | ENSP00000485321.1:n.2172+7T>C | |
| ENST00000624341.3:c.1894+7T>C | ||
| NM_000124.3:c.4062+7T>C | NP_000115.1:n.4062+7T>C | |
| XR_945953.1:n.243-11199A>G | ||
| NM_001346440.1:c.4062+7T>C | NP_001333369.1:n.4062+7T>C | |
| NM_000124.4:c.4062+7T>C MANE Select | NP_000115.1:n.4062+7T>C | |
| NM_001346440.2:c.4062+7T>C | NP_001333369.1:n.4062+7T>C |