Linked Data
gnomAD v4:
11-116822554-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822554G>T , CM000673.2:g.116822554G>T | GRCh38 |
| NC_000011.9:g.116693270G>T , CM000673.1:g.116693270G>T | GRCh37 |
| NC_000011.8:g.116198480G>T | NCBI36 |
| NG_012044.1:g.5742C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.176+105C>A MANE Select | ENSP00000350425.3:n.176+105C>A | |
| ENST00000357780.4:c.176+105C>A | ENSP00000350425.3:n.176+105C>A | |
| NM_000482.3:c.176+105C>A | NP_000473.2:n.176+105C>A | |
| NM_000482.4:c.176+105C>A MANE Select | NP_000473.2:n.176+105C>A |