Linked Data
dbSNP Id:
rs16967637
gnomAD v2:
17-40446422-C-A
gnomAD v3:
17-42294404-C-A
gnomAD v4:
17-42294404-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42294404C>A , CM000679.2:g.42294404C>A | GRCh38 |
| NC_000017.10:g.40446422C>A , CM000679.1:g.40446422C>A | GRCh37 |
| NC_000017.9:g.37699948C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000590726.7:c.-33-1215C>A | ENSP00000464730.3:n.-33-1215C>A | |
| ENST00000590949.6:c.376-1215C>A MANE Select | ENSP00000468749.1:n.376-1215C>A | |
| ENST00000676585.1:c.376-1215C>A | ENSP00000504449.1:n.376-1215C>A | |
| ENST00000676631.1:c.376-1215C>A | ENSP00000503484.1:n.376-1215C>A | |
| ENST00000677301.1:c.376-1215C>A | ENSP00000503262.1:n.376-1215C>A | |
| ENST00000677893.1:c.376-1215C>A | ENSP00000504833.1:n.376-1215C>A | |
| ENST00000678903.1:c.325-1215C>A | ENSP00000503304.1:n.325-1215C>A | |
| ENST00000345506.8:c.376-1215C>A | ENSP00000341208.4:n.376-1215C>A | |
| ENST00000546010.6:c.286-1215C>A | ENSP00000443107.1:n.286-1215C>A | |
| ENST00000588868.5:c.376-1215C>A | ENSP00000465437.1:n.376-1215C>A | |
| ENST00000590726.6:c.-33-1215C>A | ENSP00000464730.2:n.-33-1215C>A | |
| ENST00000590949.5:c.376-1215C>A | ENSP00000468749.1:n.376-1215C>A | |
| NM_001288718.1:c.376-1215C>A | NP_001275647.1:n.376-1215C>A | |
| NM_001288719.1:c.286-1215C>A | NP_001275648.1:n.286-1215C>A | |
| NM_001288720.1:c.376-1215C>A | NP_001275649.1:n.376-1215C>A | |
| NM_003152.3:c.376-1215C>A | NP_003143.2:n.376-1215C>A | |
| XM_005257624.2:c.376-1215C>A | XP_005257681.1:n.376-1215C>A | |
| XM_005257624.3:c.376-1215C>A | XP_005257681.1:n.376-1215C>A | |
| NM_001288718.2:c.376-1215C>A MANE Select | NP_001275647.1:n.376-1215C>A | |
| NM_001288719.2:c.286-1215C>A | NP_001275648.1:n.286-1215C>A | |
| NM_001288720.2:c.376-1215C>A | NP_001275649.1:n.376-1215C>A | |
| NM_003152.4:c.376-1215C>A | NP_003143.2:n.376-1215C>A |