Linked Data
ClinVar Variation Id:
349000
dbSNP Id:
rs201173415
ExAC:
4:5620244 G / A
gnomAD v2:
4-5620244-G-A
gnomAD v3:
4-5618517-G-A
gnomAD v4:
4-5618517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5618517G>A , CM000666.2:g.5618517G>A | GRCh38 |
| NC_000004.11:g.5620244G>A , CM000666.1:g.5620244G>A | GRCh37 |
| NC_000004.10:g.5671145G>A | NCBI36 |
| NG_015821.1:g.96032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2667C>T MANE Select | ENSP00000342144.5:p.Phe889= | |
| ENST00000310917.6:c.2427C>T | ENSP00000311683.2:p.Phe809= | |
| ENST00000344408.9:c.2667C>T | ENSP00000342144.5:p.Phe889= | |
| ENST00000475313.5:c.2427C>T | ENSP00000431981.1:p.Phe809= | |
| ENST00000509670.1:c.*1060C>T | ENSP00000423876.1:n.*1060C>T | |
| NM_001166136.1:c.2427C>T | NP_001159608.1:p.Phe809= | |
| NM_147127.4:c.2667C>T | NP_667338.3:p.Phe889= | |
| XM_011513392.1:c.2676C>T | XP_011511694.1:p.Phe892= | |
| XM_011513393.1:c.2676C>T | XP_011511695.1:p.Phe892= | |
| XM_011513394.1:c.2436C>T | XP_011511696.1:p.Phe812= | |
| XM_017007736.1:c.2427C>T | XP_016863225.1:p.Phe809= | |
| XM_017007737.1:c.2427C>T | XP_016863226.1:p.Phe809= | |
| XM_017007738.1:c.2667C>T | XP_016863227.1:p.Phe889= | |
| XM_017007739.1:c.987C>T | XP_016863228.1:p.Phe329= | |
| XM_024453893.1:c.987C>T | XP_024309661.1:p.Phe329= | |
| XR_001741141.1:n.2732C>T | ||
| NM_147127.5:c.2667C>T MANE Select | NP_667338.3:p.Phe889= | |
| NM_001166136.2:c.2427C>T | NP_001159608.1:p.Phe809= |