Linked Data
ClinVar Variation Id:
102
ClinVar RCV Id:
RCV000000122
dbSNP Id:
rs267606690
gnomAD v2:
2-29296527-T-A
gnomAD v4:
2-29073661-T-A
PubMed:
PMID:20398886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073661T>A , CM000664.2:g.29073661T>A | GRCh38 |
| NC_000002.11:g.29296527T>A , CM000664.1:g.29296527T>A | GRCh37 |
| NC_000002.10:g.29150031T>A | NCBI36 |
| NG_021427.1:g.5601A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331664.6:c.601A>T MANE Select | ENSP00000332809.4:p.Ile201Phe | |
| ENST00000331664.5:c.601A>T | ENSP00000332809.4:p.Ile201Phe | |
| NM_001029883.2:c.601A>T | NP_001025054.1:p.Ile201Phe | |
| XM_011532826.1:c.601A>T | XP_011531128.1:p.Ile201Phe | |
| XR_939901.1:n.185+4494T>A | ||
| XR_939902.1:n.173+4506T>A | ||
| NM_001029883.3:c.601A>T MANE Select | NP_001025054.1:p.Ile201Phe |