Linked Data
gnomAD v4:
11-116822652-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822652C>T , CM000673.2:g.116822652C>T | GRCh38 |
| NC_000011.9:g.116693368C>T , CM000673.1:g.116693368C>T | GRCh37 |
| NC_000011.8:g.116198578C>T | NCBI36 |
| NG_012044.1:g.5644G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357780.5:c.176+7G>A MANE Select | ENSP00000350425.3:n.176+7G>A | |
| ENST00000357780.4:c.176+7G>A | ENSP00000350425.3:n.176+7G>A | |
| NM_000482.3:c.176+7G>A | NP_000473.2:n.176+7G>A | |
| NM_000482.4:c.176+7G>A MANE Select | NP_000473.2:n.176+7G>A |