Linked Data
gnomAD v4:
11-118168650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168650C>T , CM000673.2:g.118168650C>T | GRCh38 |
| NC_000011.9:g.118039365C>T , CM000673.1:g.118039365C>T | GRCh37 |
| NC_000011.8:g.117544575C>T | NCBI36 |
| NG_042217.1:g.12973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.172G>A MANE Select | ENSP00000278947.5:p.Val58Met | |
| ENST00000658882.1:c.276G>A | ENSP00000499572.1:p.Gln92= | |
| ENST00000665446.1:n.408G>A | ||
| ENST00000669850.1:n.414G>A | ||
| ENST00000278947.5:c.172G>A | ENSP00000278947.5:p.Val58Met | |
| NM_004588.4:c.172G>A | NP_004579.1:p.Val58Met | |
| NM_004588.5:c.172G>A MANE Select | NP_004579.1:p.Val58Met |