Linked Data
gnomAD v4:
12-121627116-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627116G>T , CM000674.2:g.121627116G>T | GRCh38 |
| NC_000012.11:g.122065022G>T , CM000674.1:g.122065022G>T | GRCh37 |
| NC_000012.10:g.120549405G>T | NCBI36 |
| NG_007500.1:g.5542G>T , LRG_93:g.5542G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+183G>T | ||
| ENST00000617316.2:c.303+66G>T | ENSP00000482568.2:n.303+66G>T | |
| ENST00000646827.1:n.501+66G>T | ||
| ENST00000611718.1:c.180G>T | ENSP00000477953.1:p.Thr60= | |
| ENST00000616379.1:c.303+66G>T | ENSP00000480616.1:n.303+66G>T | |
| ENST00000617316.1:c.114+66G>T | ENSP00000482568.1:n.114+66G>T | |
| NM_032790.3:c.303+66G>T , LRG_93t1:c.303+66G>T | NP_116179.2:n.303+66G>T |