Linked Data
ClinVar Variation Id:
9203
dbSNP Id:
rs188094280
ExAC:
10:124812607 G / A
gnomAD v2:
10-124812607-G-A
gnomAD v3:
10-123053091-G-A
gnomAD v4:
10-123053091-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123053091G>A , CM000672.2:g.123053091G>A | GRCh38 |
| NC_000010.10:g.124812607G>A , CM000672.1:g.124812607G>A | GRCh37 |
| NC_000010.9:g.124802597G>A | NCBI36 |
| NG_008003.1:g.49179G>A , LRG_451:g.49179G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.1159G>A MANE Select | ENSP00000357873.3:p.Glu387Lys | |
| ENST00000358776.6:c.1159G>A | ENSP00000357873.3:p.Glu387Lys | |
| ENST00000368869.8:c.853G>A | ENSP00000357862.4:p.Glu285Lys | |
| ENST00000541070.1:n.331G>A | ||
| NM_001609.3:c.1159G>A , LRG_451t1:c.1159G>A | NP_001600.1:p.Glu387Lys | |
| NM_001330174.1:c.853G>A | NP_001317103.1:p.Glu285Lys | |
| NM_001330174.2:c.853G>A | NP_001317103.1:p.Glu285Lys | |
| NM_001609.4:c.1159G>A MANE Select | NP_001600.1:p.Glu387Lys | |
| NM_001330174.3:c.853G>A | NP_001317103.1:p.Glu285Lys |