Linked Data
ClinVar Variation Id:
388620
ClinVar RCV Id:
RCV000420591
dbSNP Id:
rs1057523171
gnomAD v2:
18-29078199-C-G
gnomAD v4:
18-31498236-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498236C>G , CM000680.2:g.31498236C>G | GRCh38 |
| NC_000018.9:g.29078199C>G , CM000680.1:g.29078199C>G | GRCh37 |
| NC_000018.8:g.27332197C>G | NCBI36 |
| NG_007072.3:g.4995C>G , LRG_397:g.4995C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682241.2:c.-16C>G | ENSP00000507600.2:n.-16C>G | |
| ENST00000261590.13:c.-16C>G MANE Select | ENSP00000261590.8:n.-16C>G | |
| ENST00000261590.12:c.-16C>G | ENSP00000261590.8:n.-16C>G | |
| ENST00000585206.1:c.-16C>G | ENSP00000462503.1:n.-16C>G | |
| NM_001943.3:c.-16C>G , LRG_397t1:c.-16C>G | NP_001934.2:n.-16C>G | |
| NM_001943.4:c.-16C>G | NP_001934.2:n.-16C>G | |
| NM_001943.5:c.-16C>G MANE Select | NP_001934.2:n.-16C>G |