Linked Data
ClinVar Variation Id:
37011
ClinVar RCV Id:
RCV000030688
dbSNP Id:
rs387907261
PubMed:
PMID:22693283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66639180A>T , CM000669.2:g.66639180A>T | GRCh38 |
| NC_000007.13:g.66104167A>T , CM000669.1:g.66104167A>T | GRCh37 |
| NC_000007.12:g.65741602A>T | NCBI36 |
| NG_028110.1:g.15300A>T | |
| NG_028110.2:g.15300A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.*1A>T | ENSP00000275532.4:n.*1A>T | |
| ENST00000449064.6:c.505+251A>T | ||
| ENST00000503687.2:c.397+251A>T | ENSP00000421074.1:n.397+251A>T | |
| ENST00000638524.1:c.643A>T | ||
| ENST00000638540.1:c.622A>T | ||
| ENST00000639828.2:c.818A>T MANE Select | ENSP00000492240.1:p.Asn273Ile | |
| ENST00000639879.1:c.*681A>T | ENSP00000492161.1:n.*681A>T | |
| ENST00000640234.1:c.437+251A>T | ||
| ENST00000640385.1:c.818A>T | ENSP00000491193.1:p.Asn273Ile | |
| ENST00000640601.1:c.325A>T | ||
| ENST00000640851.1:c.620A>T | ENSP00000492577.1:p.Asn207Ile | |
| ENST00000275532.7:c.818A>T | ENSP00000275532.3:p.Asn273Ile | |
| ENST00000443322.1:c.818A>T | ENSP00000411624.1:p.Asn273Ile | |
| ENST00000503687.1:c.397+251A>T | ENSP00000421074.1:n.397+251A>T | |
| NM_001167961.2:c.818A>T | NP_001161433.1:p.Asn273Ile | |
| NM_153033.4:c.818A>T | NP_694578.1:p.Asn273Ile | |
| NM_153033.5:c.818A>T MANE Select | NP_694578.1:p.Asn273Ile |