Linked Data
ClinVar Variation Id:
136418
dbSNP Id:
rs41304647
ExAC:
20:47569226 C / T
gnomAD v2:
20-47569226-C-T
gnomAD v3:
20-48952689-C-T
gnomAD v4:
20-48952689-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.48952689C>T , CM000682.2:g.48952689C>T | GRCh38 |
| NC_000020.10:g.47569226C>T , CM000682.1:g.47569226C>T | GRCh37 |
| NC_000020.9:g.47002633C>T | NCBI36 |
| NG_011490.1:g.35952C>T | |
| NG_011490.2:g.35952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371917.5:c.424-16C>T MANE Select | ENSP00000360985.4:n.424-16C>T | |
| ENST00000679436.1:c.424-16C>T | ENSP00000504888.1:n.424-16C>T | |
| ENST00000680871.1:c.424-16C>T | ENSP00000505042.1:n.424-16C>T | |
| ENST00000681021.1:c.424-16C>T | ENSP00000505972.1:n.424-16C>T | |
| ENST00000681399.1:c.*107-16C>T | ENSP00000506363.1:n.*107-16C>T | |
| ENST00000681656.1:c.424-16C>T | ENSP00000505638.1:n.424-16C>T | |
| ENST00000681885.1:c.424-16C>T | ENSP00000505737.1:n.424-16C>T | |
| ENST00000371917.4:c.424-16C>T | ENSP00000360985.4:n.424-16C>T | |
| NM_006420.2:c.424-16C>T | NP_006411.2:n.424-16C>T | |
| XM_005260252.2:c.424-16C>T | XP_005260309.1:n.424-16C>T | |
| XM_005260252.3:c.424-16C>T | XP_005260309.1:n.424-16C>T | |
| NM_006420.3:c.424-16C>T MANE Select | NP_006411.2:n.424-16C>T |