Linked Data
ClinVar Variation Id:
7886
dbSNP Id:
rs61750061
gnomAD v2:
1-94508976-C-T
gnomAD v3:
1-94043420-C-T
gnomAD v4:
1-94043420-C-T
PubMed:
PMID:9490294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043420C>T , CM000663.2:g.94043420C>T | GRCh38 |
| NC_000001.10:g.94508976C>T , CM000663.1:g.94508976C>T | GRCh37 |
| NC_000001.9:g.94281564C>T | NCBI36 |
| NG_009073.1:g.82730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3106G>A MANE Select | ENSP00000359245.3:p.Glu1036Lys | |
| ENST00000370225.3:c.3106G>A | ENSP00000359245.3:p.Glu1036Lys | |
| ENST00000536513.5:c.-64-3331G>A | ENSP00000439707.2:n.-64-3331G>A | |
| NM_000350.2:c.3106G>A | NP_000341.2:p.Glu1036Lys | |
| NM_000350.3:c.3106G>A MANE Select | NP_000341.2:p.Glu1036Lys |