Linked Data
ClinVar Variation Id:
409257
dbSNP Id:
rs780870487
ExAC:
3:8787548 G / A
gnomAD v2:
3-8787548-G-A
gnomAD v3:
3-8745862-G-A
gnomAD v4:
3-8745862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745862G>A , CM000665.2:g.8745862G>A | GRCh38 |
| NC_000003.11:g.8787548G>A , CM000665.1:g.8787548G>A | GRCh37 |
| NC_000003.10:g.8762548G>A | NCBI36 |
| NG_008797.2:g.17053G>A , LRG_329:g.17053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.451G>A MANE Select | ENSP00000341940.2:p.Val151Ile | |
| ENST00000343849.2:c.451G>A | ENSP00000341940.2:p.Val151Ile | |
| ENST00000397368.2:c.451G>A | ENSP00000380525.2:p.Val151Ile | |
| ENST00000472766.1:n.155+11872G>A | ||
| NM_001234.4:c.451G>A | NP_001225.1:p.Val151Ile | |
| NM_033337.2:c.451G>A , LRG_329t1:c.451G>A | NP_203123.1:p.Val151Ile | |
| NM_001234.5:c.451G>A | NP_001225.1:p.Val151Ile | |
| NM_033337.3:c.451G>A MANE Select | NP_203123.1:p.Val151Ile |