Linked Data
dbSNP Id:
rs1267831631
gnomAD v2:
3-9932546-C-T
gnomAD v3:
3-9890862-C-T
gnomAD v4:
3-9890862-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890862C>T , CM000665.2:g.9890862C>T | GRCh38 |
| NC_000003.11:g.9932546C>T , CM000665.1:g.9932546C>T | GRCh37 |
| NC_000003.10:g.9907546C>T | NCBI36 |
| NG_041779.1:g.5276C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.89+51C>T | ENSP00000497724.1:n.89+51C>T | |
| ENST00000647897.1:c.89+51C>T MANE Select | ENSP00000496942.1:n.89+51C>T | |
| ENST00000307768.4:c.89+51C>T | ENSP00000306106.4:n.89+51C>T | |
| ENST00000489724.1:n.179+51C>T | ||
| ENST00000616966.2:c.89+51C>T | ENSP00000481606.1:n.89+51C>T | |
| NM_032492.3:c.89+51C>T | NP_115881.3:n.89+51C>T | |
| NM_001363890.1:c.-180+51C>T | NP_001350819.1:n.-180+51C>T | |
| NM_032492.4:c.89+51C>T MANE Select | NP_115881.3:n.89+51C>T |