Linked Data
ClinVar Variation Id:
321408
ClinVar RCV Id:
RCV000375302
dbSNP Id:
rs3212362
gnomAD v2:
16-89985344-G-A
gnomAD v3:
16-89918936-G-A
gnomAD v4:
16-89918936-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89918936G>A , CM000678.2:g.89918936G>A | GRCh38 |
| NC_000016.9:g.89985344G>A , CM000678.1:g.89985344G>A | GRCh37 |
| NC_000016.8:g.88512845G>A | NCBI36 |
| NG_012026.1:g.6058G>A | |
| NG_027810.1:g.1928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.-323G>A MANE Select | ENSP00000451605.1:n.-323G>A | |
| ENST00000639847.1:c.-323G>A | ENSP00000492011.1:n.-323G>A | |
| ENST00000555147.1:c.-323G>A | ENSP00000451605.1:n.-323G>A | |
| ENST00000555427.1:c.-323G>A | ENSP00000451760.1:n.-323G>A | |
| NM_002386.3:c.-323G>A | NP_002377.4:n.-323G>A | |
| NM_002386.4:c.-323G>A MANE Select | NP_002377.4:n.-323G>A |