Linked Data
ClinVar Variation Id:
330787
dbSNP Id:
rs2515402
gnomAD v2:
2-113820580-C-A
gnomAD v3:
2-113063003-C-A
gnomAD v4:
2-113063003-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113063003C>A , CM000664.2:g.113063003C>A | GRCh38 |
| NC_000002.11:g.113820580C>A , CM000664.1:g.113820580C>A | GRCh37 |
| NC_000002.10:g.113537051C>A | NCBI36 |
| NG_031864.1:g.9366C>A , LRG_730:g.9366C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393200.7:c.*326C>A MANE Select | ENSP00000376896.2:n.*326C>A | |
| ENST00000346807.7:c.*326C>A | ENSP00000259212.3:n.*326C>A | |
| ENST00000393200.6:c.*326C>A | ENSP00000376896.2:n.*326C>A | |
| ENST00000514072.1:c.207+277C>A | ||
| NM_012275.2:c.*326C>A , LRG_730t2:c.*326C>A | NP_036407.1:n.*326C>A | |
| NM_173170.1:c.*326C>A , LRG_730t1:c.*326C>A | NP_775262.1:n.*326C>A | |
| NM_012275.3:c.*326C>A MANE Select | NP_036407.1:n.*326C>A |