Linked Data
dbSNP Id:
rs74019828
gnomAD v2:
16-58209274-G-A
gnomAD v3:
16-58175370-G-A
gnomAD v4:
16-58175370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58175370G>A , CM000678.2:g.58175370G>A | GRCh38 |
| NC_000016.9:g.58209274G>A , CM000678.1:g.58209274G>A | GRCh37 |
| NC_000016.8:g.56766775G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262506.8:c.370-860C>T MANE Select | ENSP00000262506.3:n.370-860C>T | |
| ENST00000563307.2:n.2179-860C>T | ||
| ENST00000565188.2:c.217-860C>T | ENSP00000454874.2:n.217-860C>T | |
| ENST00000677823.1:n.2179-860C>T | ||
| ENST00000262506.7:c.370-860C>T | ENSP00000262506.3:n.370-860C>T | |
| ENST00000562367.1:n.195-860C>T | ||
| ENST00000565188.1:c.370-860C>T | ENSP00000454874.1:n.370-860C>T | |
| ENST00000566813.5:n.422-860C>T | ||
| ENST00000567730.6:c.154-7575C>T | ENSP00000456606.2:n.154-7575C>T | |
| NM_001896.2:c.370-860C>T | NP_001887.1:n.370-860C>T | |
| XM_005255800.2:c.217-860C>T | XP_005255857.1:n.217-860C>T | |
| XM_005255801.2:c.-42-860C>T | XP_005255858.1:n.-42-860C>T | |
| NM_001896.3:c.370-860C>T | NP_001887.1:n.370-860C>T | |
| XM_005255800.4:c.217-860C>T | XP_005255857.1:n.217-860C>T | |
| XM_005255801.3:c.-42-860C>T | XP_005255858.1:n.-42-860C>T | |
| NM_001896.4:c.370-860C>T MANE Select | NP_001887.1:n.370-860C>T |