Linked Data
ClinVar Variation Id:
2186848
ClinVar RCV Id:
RCV002606950
dbSNP Id:
rs769491240
ExAC:
10:50738759 G / C
gnomAD v2:
10-50738759-G-C
gnomAD v4:
10-49530713-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49530713G>C , CM000672.2:g.49530713G>C | GRCh38 |
| NC_000010.10:g.50738759G>C , CM000672.1:g.50738759G>C | GRCh37 |
| NC_000010.9:g.50408765G>C | NCBI36 |
| NG_009442.1:g.13389C>G , LRG_465:g.13389C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.543+7C>G MANE Select | ENSP00000348089.5:n.543+7C>G | |
| ENST00000447839.7:c.543+7C>G MANE Plus Clinical | ENSP00000387966.2:n.543+7C>G | |
| ENST00000679596.1:c.*172+1830C>G | ENSP00000504862.1:n.*172+1830C>G | |
| ENST00000679811.1:n.626+7C>G | ||
| ENST00000680107.1:c.543+7C>G | ENSP00000505909.1:n.543+7C>G | |
| ENST00000680233.1:n.636+7C>G | ||
| ENST00000681632.1:n.621+7C>G | ||
| ENST00000681659.1:c.543+7C>G | ENSP00000505631.1:n.543+7C>G | |
| ENST00000355832.9:c.543+7C>G | ENSP00000348089.5:n.543+7C>G | |
| ENST00000447839.6:c.543+7C>G | ENSP00000387966.2:n.543+7C>G | |
| ENST00000479652.1:n.18+7C>G | ||
| ENST00000515869.1:c.543+7C>G | ENSP00000423550.1:n.543+7C>G | |
| NM_000124.3:c.543+7C>G | NP_000115.1:n.543+7C>G | |
| NM_001277058.1:c.543+7C>G | NP_001263987.1:n.543+7C>G | |
| NM_001277059.1:c.543+7C>G | NP_001263988.1:n.543+7C>G | |
| NM_001346440.1:c.543+7C>G | NP_001333369.1:n.543+7C>G | |
| NM_000124.4:c.543+7C>G MANE Select | NP_000115.1:n.543+7C>G | |
| NM_001277058.2:c.543+7C>G MANE Plus Clinical | NP_001263987.1:n.543+7C>G | |
| NM_001277059.2:c.543+7C>G | NP_001263988.1:n.543+7C>G | |
| NM_001346440.2:c.543+7C>G | NP_001333369.1:n.543+7C>G |