Linked Data
gnomAD v4:
11-112228673-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228673G>T , CM000673.2:g.112228673G>T | GRCh38 |
| NC_000011.9:g.112099396G>T , CM000673.1:g.112099396G>T | GRCh37 |
| NC_000011.8:g.111604606G>T | NCBI36 |
| NG_008743.1:g.7309G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.163G>T MANE Select | ENSP00000280362.3:p.Val55Phe | |
| ENST00000280362.7:c.163G>T | ENSP00000280362.3:p.Val55Phe | |
| ENST00000524931.1:c.-42G>T | ENSP00000434688.1:n.-42G>T | |
| ENST00000525645.1:n.238G>T | ||
| ENST00000525803.1:c.163G>T | ENSP00000431750.1:p.Gly55Ter | |
| ENST00000528679.5:c.163G>T | ENSP00000435895.1:p.Asp55Tyr | |
| ENST00000531673.5:c.163G>T | ENSP00000433469.1:p.Asp55Tyr | |
| NM_000317.2:c.163G>T | NP_000308.1:p.Val55Phe | |
| NM_000317.3:c.163G>T MANE Select | NP_000308.1:p.Val55Phe |