Linked Data
ClinVar Variation Id:
194442
dbSNP Id:
rs751356206
ExAC:
4:5624502 G / A
gnomAD v2:
4-5624502-G-A
gnomAD v3:
4-5622775-G-A
gnomAD v4:
4-5622775-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5622775G>A , CM000666.2:g.5622775G>A | GRCh38 |
| NC_000004.11:g.5624502G>A , CM000666.1:g.5624502G>A | GRCh37 |
| NC_000004.10:g.5675403G>A | NCBI36 |
| NG_015821.1:g.91774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.2263C>T MANE Select | ENSP00000342144.5:p.Gln755Ter | |
| ENST00000310917.6:c.2023C>T | ENSP00000311683.2:p.Gln675Ter | |
| ENST00000344408.9:c.2263C>T | ENSP00000342144.5:p.Gln755Ter | |
| ENST00000475313.5:c.2023C>T | ENSP00000431981.1:p.Gln675Ter | |
| ENST00000509670.1:c.*656C>T | ENSP00000423876.1:n.*656C>T | |
| NM_001166136.1:c.2023C>T | NP_001159608.1:p.Gln675Ter | |
| NM_147127.4:c.2263C>T | NP_667338.3:p.Gln755Ter | |
| XM_011513392.1:c.2272C>T | XP_011511694.1:p.Gln758Ter | |
| XM_011513393.1:c.2272C>T | XP_011511695.1:p.Gln758Ter | |
| XM_011513394.1:c.2032C>T | XP_011511696.1:p.Gln678Ter | |
| XM_017007736.1:c.2023C>T | XP_016863225.1:p.Gln675Ter | |
| XM_017007737.1:c.2023C>T | XP_016863226.1:p.Gln675Ter | |
| XM_017007738.1:c.2263C>T | XP_016863227.1:p.Gln755Ter | |
| XM_017007739.1:c.583C>T | XP_016863228.1:p.Gln195Ter | |
| XM_024453893.1:c.583C>T | XP_024309661.1:p.Gln195Ter | |
| XR_001741141.1:n.2328C>T | ||
| NM_147127.5:c.2263C>T MANE Select | NP_667338.3:p.Gln755Ter | |
| NM_001166136.2:c.2023C>T | NP_001159608.1:p.Gln675Ter |