Linked Data
dbSNP Id:
rs1306550029
gnomAD v2:
16-58209203-T-C
gnomAD v3:
16-58175299-T-C
gnomAD v4:
16-58175299-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58175299T>C , CM000678.2:g.58175299T>C | GRCh38 |
| NC_000016.9:g.58209203T>C , CM000678.1:g.58209203T>C | GRCh37 |
| NC_000016.8:g.56766704T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262506.8:c.370-789A>G MANE Select | ENSP00000262506.3:n.370-789A>G | |
| ENST00000563307.2:n.2179-789A>G | ||
| ENST00000565188.2:c.217-789A>G | ENSP00000454874.2:n.217-789A>G | |
| ENST00000677823.1:n.2179-789A>G | ||
| ENST00000262506.7:c.370-789A>G | ENSP00000262506.3:n.370-789A>G | |
| ENST00000562367.1:n.195-789A>G | ||
| ENST00000565188.1:c.370-789A>G | ENSP00000454874.1:n.370-789A>G | |
| ENST00000566813.5:n.422-789A>G | ||
| ENST00000567730.6:c.154-7504A>G | ENSP00000456606.2:n.154-7504A>G | |
| NM_001896.2:c.370-789A>G | NP_001887.1:n.370-789A>G | |
| XM_005255800.2:c.217-789A>G | XP_005255857.1:n.217-789A>G | |
| XM_005255801.2:c.-42-789A>G | XP_005255858.1:n.-42-789A>G | |
| NM_001896.3:c.370-789A>G | NP_001887.1:n.370-789A>G | |
| XM_005255800.4:c.217-789A>G | XP_005255857.1:n.217-789A>G | |
| XM_005255801.3:c.-42-789A>G | XP_005255858.1:n.-42-789A>G | |
| NM_001896.4:c.370-789A>G MANE Select | NP_001887.1:n.370-789A>G |