Linked Data
dbSNP Id:
rs1464514677
gnomAD v4:
12-121627093-C-T
MyVariant Identifiers:
chr12:g.121627093C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627093C>T , CM000674.2:g.121627093C>T | GRCh38 |
| NC_000012.11:g.122064999C>T , CM000674.1:g.122064999C>T | GRCh37 |
| NC_000012.10:g.120549382C>T | NCBI36 |
| NG_007500.1:g.5519C>T , LRG_93:g.5519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+160C>T | ||
| ENST00000617316.2:c.303+43C>T | ENSP00000482568.2:n.303+43C>T | |
| ENST00000646827.1:n.501+43C>T | ||
| ENST00000611718.1:c.157C>T | ENSP00000477953.1:p.Leu53= | |
| ENST00000616379.1:c.303+43C>T | ENSP00000480616.1:n.303+43C>T | |
| ENST00000617316.1:c.114+43C>T | ENSP00000482568.1:n.114+43C>T | |
| NM_032790.3:c.303+43C>T , LRG_93t1:c.303+43C>T | NP_116179.2:n.303+43C>T |