Linked Data
ClinVar Variation Id:
440759
ClinVar RCV Id:
RCV000508993
dbSNP Id:
rs1555472691
PubMed:
PMID:28206990
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1862053T>A , CM000678.2:g.1862053T>A | GRCh38 |
| NC_000016.9:g.1912054T>A , CM000678.1:g.1912054T>A | GRCh37 |
| NC_000016.8:g.1852055T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325962.9:c.191A>T MANE Select | ENSP00000314484.3:p.Asn64Ile | |
| ENST00000325962.7:c.191A>T | ENSP00000314484.3:p.Asn64Ile | |
| ENST00000397344.7:c.191A>T | ENSP00000380504.3:p.Asn64Ile | |
| ENST00000412554.6:c.191A>T | ENSP00000390778.2:p.Asn64Ile | |
| ENST00000460494.3:c.*1A>T | ENSP00000457427.1:n.*1A>T | |
| ENST00000470044.5:c.-431A>T | ENSP00000457416.1:n.-431A>T | |
| ENST00000496541.6:c.-431A>T | ENSP00000456880.1:n.-431A>T | |
| NM_001163560.2:c.191A>T | NP_001157032.1:p.Asn64Ile | |
| NM_152764.2:c.191A>T | NP_689977.2:p.Asn64Ile | |
| NM_001163560.3:c.191A>T MANE Select | NP_001157032.1:p.Asn64Ile | |
| NM_152764.3:c.191A>T | NP_689977.2:p.Asn64Ile |