Linked Data
ClinVar Variation Id:
99211
ClinVar RCV Id:
RCV000085562
RCV001075833
RCV001199228
RCV002498455
RCV001808323
RCV001814057
RCV002466427
dbSNP Id:
rs61751398
ExAC:
1:94508386 C / T
gnomAD v2:
1-94508386-C-T
gnomAD v3:
1-94042830-C-T
gnomAD v4:
1-94042830-C-T
COSMIC:
COSM2260638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042830C>T , CM000663.2:g.94042830C>T | GRCh38 |
| NC_000001.10:g.94508386C>T , CM000663.1:g.94508386C>T | GRCh37 |
| NC_000001.9:g.94280974C>T | NCBI36 |
| NG_009073.1:g.83320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3259G>A MANE Select | ENSP00000359245.3:p.Glu1087Lys | |
| ENST00000370225.3:c.3259G>A | ENSP00000359245.3:p.Glu1087Lys | |
| ENST00000536513.5:c.-64-2741G>A | ENSP00000439707.2:n.-64-2741G>A | |
| NM_000350.2:c.3259G>A | NP_000341.2:p.Glu1087Lys | |
| NM_000350.3:c.3259G>A MANE Select | NP_000341.2:p.Glu1087Lys |