Linked Data
ClinVar Variation Id:
2498348
dbSNP Id:
rs747116356
ExAC:
17:45363666 G / A
gnomAD v2:
17-45363666-G-A
gnomAD v4:
17-47286300-G-A
ERepo:
CA8623016/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286300G>A , CM000679.2:g.47286300G>A | GRCh38 |
| NC_000017.10:g.45363666G>A , CM000679.1:g.45363666G>A | GRCh37 |
| NC_000017.9:g.42718665G>A | NCBI36 |
| NG_008332.2:g.37459G>A , LRG_481:g.37459G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.655G>A | ENSP00000513002.1:p.Val219Met | |
| ENST00000559488.7:c.655G>A MANE Select | ENSP00000452786.2:p.Val219Met | |
| ENST00000559488.5:c.655G>A | ENSP00000452786.1:p.Val219Met | |
| ENST00000560629.1:c.620G>A | ||
| ENST00000571680.1:c.655G>A | ENSP00000461626.1:p.Val219Met | |
| NM_000212.2:c.655G>A , LRG_481t1:c.655G>A | NP_000203.2:p.Val219Met | |
| NM_000212.3:c.655G>A MANE Select | NP_000203.2:p.Val219Met |