Linked Data
ClinVar Variation Id:
183345
dbSNP Id:
rs369082457
ExAC:
3:39226442 C / T
gnomAD v2:
3-39226442-C-T
gnomAD v3:
3-39184951-C-T
gnomAD v4:
3-39184951-C-T
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39184951C>T , CM000665.2:g.39184951C>T | GRCh38 |
| NC_000003.11:g.39226442C>T , CM000665.1:g.39226442C>T | GRCh37 |
| NC_000003.10:g.39201446C>T | NCBI36 |
| NG_054927.1:g.12670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340369.4:c.4495G>A MANE Select | ENSP00000343140.3:p.Glu1499Lys | |
| ENST00000340369.3:c.4495G>A | ENSP00000343140.3:p.Glu1499Lys | |
| ENST00000396251.1:c.*702G>A | ENSP00000379550.1:n.*702G>A | |
| ENST00000421646.1:c.544G>A | ENSP00000391645.1:p.Glu182Lys | |
| NM_001198621.2:c.*702G>A | NP_001185550.1:n.*702G>A | |
| NM_194293.2:c.4495G>A | NP_919269.2:p.Glu1499Lys | |
| XM_005264909.2:c.4495G>A | XP_005264966.1:p.Glu1499Lys | |
| NM_001198621.3:c.*702G>A | NP_001185550.1:n.*702G>A | |
| NM_001351377.1:c.544G>A | NP_001338306.1:p.Glu182Lys | |
| NM_194293.3:c.4495G>A | NP_919269.2:p.Glu1499Lys | |
| XM_005264909.3:c.4495G>A | XP_005264966.1:p.Glu1499Lys | |
| NM_194293.4:c.4495G>A MANE Select | NP_919269.2:p.Glu1499Lys | |
| NM_001198621.4:c.*702G>A | NP_001185550.1:n.*702G>A | |
| NM_001351377.2:c.544G>A | NP_001338306.1:p.Glu182Lys |