Linked Data
ClinVar Variation Id:
227283
dbSNP Id:
rs747073500
ExAC:
2:220285375 G / A
gnomAD v2:
2-220285375-G-A
gnomAD v3:
2-219420653-G-A
gnomAD v4:
2-219420653-G-A
COSMIC:
COSM3577979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420653G>A , CM000664.2:g.219420653G>A | GRCh38 |
| NC_000002.11:g.220285375G>A , CM000664.1:g.220285375G>A | GRCh37 |
| NC_000002.10:g.219993619G>A | NCBI36 |
| NG_008043.1:g.7277G>A , LRG_380:g.7277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.368G>A | ||
| ENST00000683013.1:n.282G>A | ||
| ENST00000373960.4:c.894G>A MANE Select | ENSP00000363071.3:p.Ser298= | |
| ENST00000373960.3:c.894G>A | ENSP00000363071.3:p.Ser298= | |
| ENST00000477226.5:n.366G>A | ||
| ENST00000492726.1:n.289G>A | ||
| NM_001927.3:c.894G>A , LRG_380t1:c.894G>A | NP_001918.3:p.Ser298= | |
| NM_001927.4:c.894G>A MANE Select | NP_001918.3:p.Ser298= | |
| NM_001382708.1:c.891G>A | NP_001369637.1:p.Ser297= | |
| NM_001382709.1:c.735+307G>A | NP_001369638.1:n.735+307G>A | |
| NM_001382710.1:c.894G>A | NP_001369639.1:p.Ser298= | |
| NM_001382711.1:c.894G>A | NP_001369640.1:p.Ser298= | |
| NM_001382712.1:c.894G>A | NP_001369641.1:p.Ser298= | |
| NM_001382713.1:c.624G>A | NP_001369642.1:p.Ser208= |