Linked Data
ClinVar Variation Id:
384310
ClinVar RCV Id:
RCV000426527
dbSNP Id:
rs139138817
ExAC:
20:47580452 A / G
gnomAD v2:
20-47580452-A-G
gnomAD v3:
20-48963915-A-G
gnomAD v4:
20-48963915-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48963915A>G , CM000682.2:g.48963915A>G | GRCh38 |
| NC_000020.10:g.47580452A>G , CM000682.1:g.47580452A>G | GRCh37 |
| NC_000020.9:g.47013859A>G | NCBI36 |
| NG_011490.1:g.47178A>G | |
| NG_011490.2:g.47178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.907+17A>G MANE Select | ENSP00000360985.4:n.907+17A>G | |
| ENST00000679436.1:c.907+17A>G | ENSP00000504888.1:n.907+17A>G | |
| ENST00000679542.1:n.464+17A>G | ||
| ENST00000680635.1:n.464+17A>G | ||
| ENST00000680871.1:c.907+17A>G | ENSP00000505042.1:n.907+17A>G | |
| ENST00000681021.1:c.907+17A>G | ENSP00000505972.1:n.907+17A>G | |
| ENST00000681399.1:c.*590+17A>G | ENSP00000506363.1:n.*590+17A>G | |
| ENST00000681656.1:c.907+17A>G | ENSP00000505638.1:n.907+17A>G | |
| ENST00000681885.1:c.907+17A>G | ENSP00000505737.1:n.907+17A>G | |
| ENST00000371917.4:c.907+17A>G | ENSP00000360985.4:n.907+17A>G | |
| NM_006420.2:c.907+17A>G | NP_006411.2:n.907+17A>G | |
| XM_005260252.2:c.907+17A>G | XP_005260309.1:n.907+17A>G | |
| XM_005260252.3:c.907+17A>G | XP_005260309.1:n.907+17A>G | |
| NM_006420.3:c.907+17A>G MANE Select | NP_006411.2:n.907+17A>G |