Linked Data
dbSNP Id:
rs1207782951
gnomAD v3:
12-121627110-C-A
gnomAD v4:
12-121627110-C-A
MyVariant Identifiers:
chr12:g.121627110C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627110C>A , CM000674.2:g.121627110C>A | GRCh38 |
| NC_000012.11:g.122065016C>A , CM000674.1:g.122065016C>A | GRCh37 |
| NC_000012.10:g.120549399C>A | NCBI36 |
| NG_007500.1:g.5536C>A , LRG_93:g.5536C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+177C>A | ||
| ENST00000617316.2:c.303+60C>A | ENSP00000482568.2:n.303+60C>A | |
| ENST00000646827.1:n.501+60C>A | ||
| ENST00000611718.1:c.174C>A | ENSP00000477953.1:p.Ala58= | |
| ENST00000616379.1:c.303+60C>A | ENSP00000480616.1:n.303+60C>A | |
| ENST00000617316.1:c.114+60C>A | ENSP00000482568.1:n.114+60C>A | |
| NM_032790.3:c.303+60C>A , LRG_93t1:c.303+60C>A | NP_116179.2:n.303+60C>A |