Linked Data
ClinVar Variation Id:
542093
ClinVar RCV Id:
RCV001500941
dbSNP Id:
rs368819551
ExAC:
3:69167921 A / G
gnomAD v2:
3-69167921-A-G
gnomAD v3:
3-69118770-A-G
gnomAD v4:
3-69118770-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69118770A>G , CM000665.2:g.69118770A>G | GRCh38 |
| NC_000003.11:g.69167921A>G , CM000665.1:g.69167921A>G | GRCh37 |
| NC_000003.10:g.69250611A>G | NCBI36 |
| NG_041828.1:g.8826T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.1585T>C MANE Select | ENSP00000414670.3:p.Leu529= | |
| ENST00000420581.6:c.1585T>C | ENSP00000414670.2:p.Leu529= | |
| ENST00000475434.1:c.1585T>C | ENSP00000418645.1:p.Leu529= | |
| ENST00000489031.5:c.1585T>C | ENSP00000417210.1:p.Leu529= | |
| NM_001304418.1:c.1585T>C | NP_001291347.1:p.Leu529= | |
| NM_198271.4:c.1585T>C | NP_938012.2:p.Leu529= | |
| NM_001304418.3:c.1585T>C | NP_001291347.1:p.Leu529= | |
| NM_198271.5:c.1585T>C MANE Select | NP_938012.2:p.Leu529= |