Linked Data
ClinVar Variation Id:
268213
dbSNP Id:
rs199535970
ExAC:
9:132584943 C / T
gnomAD v2:
9-132584943-C-T
gnomAD v3:
9-129822664-C-T
gnomAD v4:
9-129822664-C-T
COSMIC:
COSM1314556
PubMed:
PMID:20301665
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129822664C>T , CM000671.2:g.129822664C>T | GRCh38 |
| NC_000009.11:g.132584943C>T , CM000671.1:g.132584943C>T | GRCh37 |
| NC_000009.10:g.131624764C>T | NCBI36 |
| NG_008049.1:g.6499G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.361G>A MANE Select | ENSP00000345719.4:p.Glu121Lys | |
| ENST00000651202.1:c.457G>A | ENSP00000498222.1:p.Glu153Lys | |
| ENST00000351698.4:c.361G>A | ENSP00000345719.4:p.Glu121Lys | |
| ENST00000473084.1:n.380G>A | ||
| ENST00000473604.2:n.471G>A | ||
| NM_000113.2:c.361G>A | NP_000104.1:p.Glu121Lys | |
| XR_929731.1:n.521G>A | ||
| XR_929731.3:n.389G>A | ||
| NM_000113.3:c.361G>A MANE Select | NP_000104.1:p.Glu121Lys |