Linked Data
ClinVar Variation Id:
259607
dbSNP Id:
rs13204
ExAC:
17:4849284 G / A
gnomAD v2:
17-4849284-G-A
gnomAD v3:
17-4945989-G-A
gnomAD v4:
17-4945989-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945989G>A , CM000679.2:g.4945989G>A | GRCh38 |
| NC_000017.10:g.4849284G>A , CM000679.1:g.4849284G>A | GRCh37 |
| NC_000017.9:g.4790029G>A | NCBI36 |
| NG_012063.2:g.4899G>A | |
| NG_032945.1:g.8098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.334C>T MANE Select | ENSP00000225655.5:p.Leu112= | |
| ENST00000225655.5:c.334C>T | ENSP00000225655.5:p.Leu112= | |
| ENST00000574872.1:c.226C>T | ENSP00000465019.1:p.Leu76= | |
| NM_005022.3:c.334C>T | NP_005013.1:p.Leu112= | |
| XM_017024761.1:c.*418C>T | XP_016880250.1:n.*418C>T | |
| NM_001375991.1:c.*418C>T | NP_001362920.1:n.*418C>T | |
| NM_005022.4:c.334C>T MANE Select | NP_005013.1:p.Leu112= |