Linked Data
ClinVar Variation Id:
492243
dbSNP Id:
rs927208593
gnomAD v2:
1-55509500-C-A
gnomAD v3:
1-55043827-C-A
gnomAD v4:
1-55043827-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043827C>A , CM000663.2:g.55043827C>A | GRCh38 |
| NC_000001.10:g.55509500C>A , CM000663.1:g.55509500C>A | GRCh37 |
| NC_000001.9:g.55282088C>A | NCBI36 |
| NG_009061.1:g.9281C>A , LRG_275:g.9281C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.208-16C>A | ENSP00000501161.2:n.208-16C>A | |
| ENST00000710286.1:c.565-16C>A | ENSP00000518176.1:n.565-16C>A | |
| ENST00000673726.1:c.208-16C>A | ENSP00000501004.1:n.208-16C>A | |
| ENST00000673903.1:c.-168-16C>A | ENSP00000501257.1:n.-168-16C>A | |
| ENST00000302118.5:c.208-16C>A MANE Select | ENSP00000303208.5:n.208-16C>A | |
| NM_174936.3:c.208-16C>A , LRG_275t1:c.208-16C>A | NP_777596.2:n.208-16C>A | |
| NR_110451.1:n.182+3424C>A | ||
| NM_174936.4:c.208-16C>A MANE Select | NP_777596.2:n.208-16C>A | |
| NR_110451.2:n.182+3424C>A |