Linked Data
dbSNP Id:
rs570622285
ExAC:
3:9932534 C / A
gnomAD v2:
3-9932534-C-A
gnomAD v3:
3-9890850-C-A
gnomAD v4:
3-9890850-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890850C>A , CM000665.2:g.9890850C>A | GRCh38 |
| NC_000003.11:g.9932534C>A , CM000665.1:g.9932534C>A | GRCh37 |
| NC_000003.10:g.9907534C>A | NCBI36 |
| NG_041779.1:g.5264C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.89+39C>A | ENSP00000497724.1:n.89+39C>A | |
| ENST00000647897.1:c.89+39C>A MANE Select | ENSP00000496942.1:n.89+39C>A | |
| ENST00000307768.4:c.89+39C>A | ENSP00000306106.4:n.89+39C>A | |
| ENST00000489724.1:n.179+39C>A | ||
| ENST00000616966.2:c.89+39C>A | ENSP00000481606.1:n.89+39C>A | |
| NM_032492.3:c.89+39C>A | NP_115881.3:n.89+39C>A | |
| NM_001363890.1:c.-180+39C>A | NP_001350819.1:n.-180+39C>A | |
| NM_032492.4:c.89+39C>A MANE Select | NP_115881.3:n.89+39C>A |