Linked Data
gnomAD v4:
12-121627080-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627080T>A , CM000674.2:g.121627080T>A | GRCh38 |
| NC_000012.11:g.122064986T>A , CM000674.1:g.122064986T>A | GRCh37 |
| NC_000012.10:g.120549369T>A | NCBI36 |
| NG_007500.1:g.5506T>A , LRG_93:g.5506T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+147T>A | ||
| ENST00000617316.2:c.303+30T>A | ENSP00000482568.2:n.303+30T>A | |
| ENST00000646827.1:n.501+30T>A | ||
| ENST00000611718.1:c.144T>A | ENSP00000477953.1:p.Pro48= | |
| ENST00000616379.1:c.303+30T>A | ENSP00000480616.1:n.303+30T>A | |
| ENST00000617316.1:c.114+30T>A | ENSP00000482568.1:n.114+30T>A | |
| NM_032790.3:c.303+30T>A , LRG_93t1:c.303+30T>A | NP_116179.2:n.303+30T>A |