Linked Data
ClinVar Variation Id:
3386
dbSNP Id:
rs137852927
ExAC:
4:5577974 G / A
gnomAD v2:
4-5577974-G-A
gnomAD v3:
4-5576247-G-A
gnomAD v4:
4-5576247-G-A
PubMed:
PMID:12468274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5576247G>A , CM000666.2:g.5576247G>A | GRCh38 |
| NC_000004.11:g.5577974G>A , CM000666.1:g.5577974G>A | GRCh37 |
| NC_000004.10:g.5628875G>A | NCBI36 |
| NG_015821.1:g.138302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3265C>T MANE Select | ENSP00000342144.5:p.Gln1089Ter | |
| ENST00000310917.6:c.3025C>T | ENSP00000311683.2:p.Gln1009Ter | |
| ENST00000344408.9:c.3265C>T | ENSP00000342144.5:p.Gln1089Ter | |
| ENST00000475313.5:c.3025C>T | ENSP00000431981.1:p.Gln1009Ter | |
| ENST00000509670.1:c.*1658C>T | ENSP00000423876.1:n.*1658C>T | |
| NM_001166136.1:c.3025C>T | NP_001159608.1:p.Gln1009Ter | |
| NM_147127.4:c.3265C>T | NP_667338.3:p.Gln1089Ter | |
| XM_011513392.1:c.3274C>T | XP_011511694.1:p.Gln1092Ter | |
| XM_011513393.1:c.3274C>T | XP_011511695.1:p.Gln1092Ter | |
| XM_011513394.1:c.3034C>T | XP_011511696.1:p.Gln1012Ter | |
| XM_017007736.1:c.3025C>T | XP_016863225.1:p.Gln1009Ter | |
| XM_017007737.1:c.3025C>T | XP_016863226.1:p.Gln1009Ter | |
| XM_017007738.1:c.3265C>T | XP_016863227.1:p.Gln1089Ter | |
| XM_017007739.1:c.1585C>T | XP_016863228.1:p.Gln529Ter | |
| XM_024453893.1:c.1585C>T | XP_024309661.1:p.Gln529Ter | |
| XR_001741141.1:n.3123-1475C>T | ||
| NM_147127.5:c.3265C>T MANE Select | NP_667338.3:p.Gln1089Ter | |
| NM_001166136.2:c.3025C>T | NP_001159608.1:p.Gln1009Ter |