Linked Data
ClinVar Variation Id:
302666
dbSNP Id:
rs2231450
gnomAD v2:
11-118186312-C-A
gnomAD v3:
11-118315597-C-A
gnomAD v4:
11-118315597-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118315597C>A , CM000673.2:g.118315597C>A | GRCh38 |
| NC_000011.9:g.118186312C>A , CM000673.1:g.118186312C>A | GRCh37 |
| NC_000011.8:g.117691522C>A | NCBI36 |
| NG_007383.1:g.16018C>A , LRG_38:g.16018C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.*55C>A MANE Select | ENSP00000354566.4:n.*55C>A | |
| ENST00000361763.8:c.*55C>A | ENSP00000354566.4:n.*55C>A | |
| ENST00000526146.5:n.2065C>A | ||
| ENST00000528600.1:c.*55C>A | ENSP00000433975.1:n.*55C>A | |
| ENST00000531913.1:n.1050C>A | ||
| NM_000733.3:c.*55C>A , LRG_38t1:c.*55C>A | NP_000724.1:n.*55C>A | |
| NM_000733.4:c.*55C>A MANE Select | NP_000724.1:n.*55C>A |