Linked Data
dbSNP Id:
rs1555322648
gnomAD v2:
12-122065034-G-A
gnomAD v3:
12-121627128-G-A
gnomAD v4:
12-121627128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627128G>A , CM000674.2:g.121627128G>A | GRCh38 |
| NC_000012.11:g.122065034G>A , CM000674.1:g.122065034G>A | GRCh37 |
| NC_000012.10:g.120549417G>A | NCBI36 |
| NG_007500.1:g.5554G>A , LRG_93:g.5554G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+195G>A | ||
| ENST00000617316.2:c.303+78G>A | ENSP00000482568.2:n.303+78G>A | |
| ENST00000646827.1:n.501+78G>A | ||
| ENST00000611718.1:c.192G>A | ENSP00000477953.1:p.Gly64= | |
| ENST00000616379.1:c.303+78G>A | ENSP00000480616.1:n.303+78G>A | |
| ENST00000617316.1:c.114+78G>A | ENSP00000482568.1:n.114+78G>A | |
| NM_032790.3:c.303+78G>A , LRG_93t1:c.303+78G>A | NP_116179.2:n.303+78G>A |